Connective tissue pathology symptoms. Connective tissue dysplasia syndrome. What is dysplasia

Connective tissue performs several functions in the human body at once. It is not responsible for the functioning of any organs, but at the same time forms their supporting frame and external integuments.

The organs of the human body are 90% composed of connective tissue... In some cases, a person may develop a special systemic connective tissue disease called dysplasia.

This term means a failure in the formation and development of connective tissue in humans. Dysplasia is a systemic disease and can involve groups of organs.

The disease can occur both at the stage of intrauterine development of a child, and develop after his birth.

The specificity of connective tissue dysplasia is that it is not limited to only one specific manifestation, but is a group of diseases. Their feature is the non-inflammatory nature of the occurrence.

The syndrome is expressed as:

• damage to structures and tissue substance;
• changes occurring in collagens, complex proteins, fibroblasts, elastic fibrils.

These defects become the main cause of impaired self-regulation in the body at any level, since connective tissue is present in any part of it.

Designation in ICD

For a long time, there was no generally accepted name for this disease in medicine.

With the final confirmation of the systemic nature of the development of dysplasia, the general definition of the disease - hypermobile syndrome - was officially approved.

This disease has an ICD-10 code - M35.7... Joint hypermobility according to the International Classifier is the main symptom of connective tissue diseases. This emphasizes the systemic nature of dysplasia.

In Russian medicine, a group of diseases is called connective tissue dysplasia. This term includes both syndromic and non-syndromic manifestations of the disease.

Reasons for development

The main provoking factor in the development of the disease are various gene mutations that the child's body undergoes during intrauterine development. Mutations affect different kinds enzymes, protein-carbohydrate complexes.

More than 1000 different variants of genetic changes in proteins that provoke the development of the disease are possible. The disease can be inherited.

The following factors are the causes of mutations:

With mutations, the following possible variants of disturbances in protein chains can occur:

• their lengthening;
• truncation;
• development of selective mutations by substitution of amino acids.

Reference. It is assumed that one of the factors in the onset of connective tissue dysplasia in humans is insufficient intake of magnesium in his body during embryonic development.

Symptoms

The manifestations of the disease are different. There are both light forms and heavy ones that require a special approach. Symptoms and treatment of connective tissue dysplasia syndrome highly individual for each patient and in many ways unique.

The following variants of the manifestation of the disease are possible:

Symptoms depend on the type of disease. There are differentiated and undifferentiated forms of it. The first signs are:

• aortic aneurysm;
• fragility of bones;
• cutaneous atrophy;
• deformation of the fingers (arachnodactyly);
• scoliosis;
• funnel-shaped deformity of the chest;
• increased vulnerability of the skin (Ehlers-Danlos syndrome);
• Marfan's disease in the form of a violation of the shape of the skeleton, pathologies of the organs of vision and the cardiovascular system.

The syndrome of undifferentiated connective tissue dysplasia is manifested by symptoms:

• increased skin elasticity;
• excessive joint mobility;
• skeletal abnormalities;
• atypical thinness of the skin;
• various forms of malfunction of myocardial valves, organs of vision.

Attention! People with undifferentiated dysplasia are not counted among the patients, but belong to the group of patients prone to the manifestation of possible characteristic pathologies.

Diagnostics

Most accurate diagnosis allow you to establish the following methods:

• examination with an endoscope;
• skin biopsy;
• X-ray examination of joints, lungs, spine;
• electrophysiological examination (ECG, electroencephalogram);
• a blood test for biochemistry;
• Ultrasound of the kidneys and pelvic organs;
• medical genetic examination;
• daily urine analysis;
• measurement of body parts;
• joint mobility test.

The detection of problems in the functioning of several body systems indicates the probable development of connective tissue dysplasia in the patient.

Therapies

Therapy for the disease should be complex and individual, depending on the symptoms and lesions in the patient of specific body systems. Treatment for the disease includes:

• physiotherapy, special exercises;
• taking medications to improve metabolism;
• adherence to the diet;
• surgical methods for deformity chest and the musculoskeletal system.

Non-drug therapy contains:

Drug therapy includes taking the following funds:

• metabolic stabilizers (Alfacalcidol);
• collagen production stimulants (ascorbic acid, magnesium citrate);
• drugs supporting the heart muscle (Mildronat, Lecithin);
• tissue regeneration stimulants ("Chondroxide");
• drugs normalizing amino acid level ("Glycine").

Patients need intensive nutrition. You need to eat protein foods, fish, cheeses, seafood in large quantities. It is important to include meat-based broths, fruits and vegetables in the diet, and also take Omega-class dietary supplements.

Peculiarity! Surgical treatment is carried out only in two cases: when a person has a life threat with severe vascular pathology and with obvious deformities of the chest.

Feature of treatment in children

The syndrome of connective tissue dysplasia in children requires a special approach to its treatment. It is important to pay attention to the following methods:

• compliance with the child's diet(it should be dense and include various types of meat, legumes, fruits and vegetables, seafood);
• correct lifestyle organization(rejection of serious sports activities in favor of physiotherapy and light gymnastic exercises);
• competent adaptation of the child to life in society(a lesson with a psychologist in order to prevent the formation of an inferiority complex);
• use of special joints strengthening splints and plaster cast for young children;
• application of a course of drugs stimulating metabolism(the duration of the course is 60 days, after which a break is taken).

In case of serious pathologies against the background of an illness, the child needs surgical treatment in the form of a surgical operation. It is carried out in case of serious threats to the life of children with connective tissue dysplasia.

Important! Muscle dysplasia in children, as in adults, due to the genetic factor of its development, does not give in to definitive treatment. Therapy can only reduce the signs of its manifestation, slow down the symptoms or stop the development of the syndrome.

Contraindications

If a person has this disease, the following is not recommended and prohibited:

• engage in hard and harmful work;
• perform exercises for stretching the spine or hanging on a horizontal bar;
• expose yourself to stress and psychological overload;
• engage in contact sports, as well as weightlifting.

Conclusion

Connective tissue dysplasia syndrome is a group of diseases of genetic origin. They are characterized by a multiplicity of symptoms, which requires an integrated approach to diagnosis and treatment.

Taking into account the hereditary nature of the development of the disease, it does not lend itself to final treatment, but the therapy used with it can significantly improve the patient's quality of life and avoid the progression of pathologies up to the onset of old age.

Connective tissue dysplasia (dis - disorders, рlasia - development, education) - a violation of the development of connective tissue in the embryonic and postnatal periods, a genetically determined condition characterized by defects in fibrous structures and the basic substance of connective tissue, leading to a disorder of homeostasis at the tissue, organ and organism levels in the form of various morphofunctional disorders of visceral and locomotor organs with a progressive course, which determines the features of associated pathology, as well as pharmacokinetics and pharmacodynamics of drugs.

The classification and data on the prevalence of connective tissue dysplasia are actually contradictory and one of the most controversial scientific issues, due to different classification and diagnostic approaches.

Connective tissue dysplasia is morphologically characterized by changes in collagen, elastic fibrils, glycoproteins, proteoglycans and fibroblasts, which are based on inherited mutations in genes encoding the synthesis and spatial organization of collagen, structural proteins and protein-carbohydrate complexes, as well as mutations in the genes of enzymes and cofactors to them. Some researchers, based on the magnesium deficiency in various substrates (hair, erythrocytes, oral fluid) detected in 46.6–72.0% of cases with connective tissue dysplasia, admit the pathogenetic significance of hypomagnesemia.

!!! one of the fundamental characteristics of connective tissue dysplasia as a dysmorphogenetic phenomenon - phenotypic signs of connective tissue dysplasia may be absent at birth or have very slight severity (even in cases of differentiated forms of connective tissue dysplasia) and, like an image on photographic paper, manifest themselves throughout life; over the years, the number of signs of connective tissue dysplasia and their severity grows progressively

Connective tissue dysplasia can be classified based on a genetic defect during collagen synthesis, maturation, or breakdown. This is a promising classification approach that makes it possible to substantiate the genetically differentiated diagnosis of connective tissue dysplasia, but today this approach is limited to hereditary connective tissue dysplasia syndromes.

T. I. Kadurina (2000) identifies the following forms of connective tissue dysplasia, noting that these phenotypes are the most common forms of non-syndromic connective tissue dysplasia:

• MASS phenotype - characterized by signs of generalized connective tissue dysplasia, a number of cardiac abnormalities, skeletal abnormalities, as well as skin changes in the form of thinning or the presence of subatrophic areas;
• marfanoid phenotype- characterized by a combination of signs of generalized connective tissue dysplasia with asthenic constitution, dolichostenomelia, arachnodactyly, damage to the valvular apparatus of the heart (and sometimes the aorta), visual impairment;
• eler-like phenotype- there is a combination of signs of generalized dysplasia of connective tissue with a tendency to hyper-extensibility of the skin and varying degrees of severity of hypermobility of the joints.

There are no universal pathological lesions of connective tissue that would form a specific phenotype. Each defect in each patient is unique in its own way. At the same time, the comprehensive distribution of connective tissue in the body determines the multiorganism of lesions in connective tissue dysplasia. In this regard, a classification approach is proposed with the isolation of syndromes associated with dysplastic-dependent changes and pathological conditions.

Neurological Disorder Syndrome: syndrome of autonomic dysfunction (vegetative-vascular dystonia, panic attacks, etc.), hemicrania. Autonomic dysfunction syndrome is one of the first to develop in a significant number of patients with connective tissue dysplasia. Already early childhood and is considered as an essential component of the dysplastic phenotype. In most patients, sympathicotonia is detected, the mixed form is less common, in a small percentage of cases - vagotonia. The severity of the clinical manifestations of the syndrome increases in parallel with the severity of connective tissue dysplasia. Autonomic dysfunction is observed in 97% of cases of hereditary syndromes, with an undifferentiated form of connective tissue dysplasia in 78% of patients. In the formation of autonomic disorders in patients with connective tissue dysplasia, genetic factors are important, which underlie the violation of the biochemistry of metabolic processes in the connective tissue and the formation of morphological substrates, leading to a change in the function of the hypothalamus, pituitary gland, gonads, and the sympathetic-adrenal system.

Asthenic syndrome: decreased performance, deterioration in the tolerance of physical and psycho-emotional stress, increased fatigue. Asthenic syndrome is detected in preschool and especially clearly in school, adolescence and young age, accompanying patients with connective tissue dysplasia throughout their lives. The dependence of the severity of clinical manifestations of asthenia on the age of patients is noted: the older the patients, the more subjective complaints.

Valve syndrome: isolated and combined prolapse of heart valves, myxomatous degeneration of valves. More often it is represented by mitral valve prolapse (up to 70%), less often by tricuspid or aortic valve prolapse, enlargement of the aortic root and pulmonary trunk; aneurysms of the Valsalva sinuses. In some cases, the revealed changes are accompanied by the phenomena of regurgitation, which is reflected in the indicators of myocardial contractility and volumetric parameters of the heart. Valvular syndrome also begins to form in childhood (4–5 years). Auscultatory signs of mitral valve prolapse are detected at different ages: from 4 to 34 years, but most often at the age of 12-14 years. It should be noted that echocardiographic data are in a dynamic state: more pronounced changes are noted during subsequent examinations, which reflects the effect of age on the state of the valve apparatus. In addition, the severity of connective tissue dysplasia and ventricular volume affect the severity of valve changes.

Thoracodiaphragmatic Syndrome: asthenic form of the chest, chest deformities (funnel-shaped, keeled), spinal deformities (scoliosis, kyphoscoliosis, hyperkyphosis, hyperlordosis, etc.), changes in standing and excursion of the diaphragm. Among patients with connective tissue dysplasia, funnel-shaped chest deformity is most common, keeled deformity is in second place in frequency, and asthenic chest shape is most rarely detected. The beginning of the formation of thoracodiaphragmatic syndrome occurs at early school age, the distinctness of manifestations falls at the age of 10–12 years, the maximum severity for the period of 14–15 years. In all cases, funnel-shaped deformity is noted by doctors and parents 2-3 years earlier than keeled. The presence of thoracodiaphragmatic syndrome determines a decrease in the respiratory surface of the lungs, deformation of the lumen of the trachea and bronchi; displacement and rotation of the heart, "torsion" of the main vascular trunks. Qualitative (variant of deformation) and quantitative (degree of deformation) characteristics of thoracodiaphragmatic syndrome determine the nature and severity of changes in morphofunctional parameters of the heart and lungs. Deformations of the sternum, ribs, spine and the associated high standing of the diaphragm lead to a decrease in the chest cavity, an increase in intrathoracic pressure, disrupt the flow and outflow of blood, and contribute to the occurrence of cardiac arrhythmias. The presence of thoracodiaphragmatic syndrome can lead to an increase in pressure in the system of the pulmonary circulation.

Vascular syndrome: 1) damage to arteries of the elastic type: idiopathic expansion of the wall with the formation of a saccular aneurysm; 2) lesion of arteries of muscular and mixed types: bifurcation-hemodynamic aneurysms, dolichoectasias of elongated and local enlargements of arteries, pathological tortuosity up to loop formation; 3) damage to the veins (pathological tortuosity, varicose veins of the upper and lower extremities, hemorrhoids and other veins); 4) telangiectasia; 5) endothelial dysfunction. Vascular changes are accompanied by an increase in tone in the system of large, small arteries and arterioles, a decrease in the volume and rate of filling of the arterial bed, a decrease in venous tone and excessive blood deposition in peripheral veins. Vascular syndrome, as a rule, manifests in adolescence and young age, progressing with increasing age of patients.

Changes in blood pressure: idiopathic arterial hypotension.

Thoracodiaphragmatic heart: asthenic, constrictive, pseudostenotic, pseudodilatation variants, thoracodiaphragmatic cor pulmonale. The formation of the thoracodiaphragmatic heart occurs in parallel with the manifestation and progression of deformity of the chest and spine, against the background of valvular and vascular syndromes. Variants of the thoracodiaphragmatic heart reflect a disturbance in the harmony of the relationship between the weight and volume of the heart, the weight and volume of the whole body, the volume of the heart and the volume of large arterial trunks against the background of dysplastic-dependent disorganization of the growth of tissue structures of the myocardium itself, in particular, its muscle and nerve elements. In patients with a typical asthenic constitution, an asthenic variant of the thoracodiaphragmatic heart is formed, characterized by a decrease in the size of the heart chambers with a "normal" systolic and diastolic wall thickness and interventricular septum, "normal" indicators of myocardial mass, - the formation of a true small heart. The contractile process in this situation is accompanied by an increase in circular stress and intramyocardial tension in the circular direction towards systole, which indicated the hyperreactivity of compensatory mechanisms against the background of predominant sympathetic influences. It was found that the defining factors in the change in morphometric, volumetric, contractile and phase parameters of the heart are the shape of the chest and the level physical development musculoskeletal system. "Pericarditis-like" situation with the development of a dysplastic-dependent constrictive heart observed in some patients with a pronounced form of connective tissue dysplasia and various variants of chest deformity (funnel-shaped deformity of I, II degrees) in conditions of a decrease in the volume of the chest cavity; a decrease in the maximum size of the heart with a change in the geometry of the cavities is hemodynamically unfavorable, accompanied by a decrease in the thickness of the myocardial walls in systole; with a decrease in the stroke volume of the heart, a compensatory increase in the total peripheral resistance occurs. "Torsion" of the main vascular trunks, with the formation of a false-tenotic variant of the thoracodiaphragmatic heart observed in a number of patients with chest deformity (funnel-shaped deformity of the III degree, keeled deformity) with displacement of the heart, when it "leaves" from the mechanical effects of the chest skeleton, rotating and accompanied. "Syndrome of stenosis" of the exit from the ventricles accompanied by an increase in the tension of myocardial structures in the meridional and circular directions, an increase in the systolic tension of the myocardial wall with an increase in the duration of the preparatory period for expulsion, an increase in pressure in the pulmonary artery. Pseudodilatory variant of the thoracodiaphragmatic heart is formed in patients with keeled chest deformity of II and III degrees, an increase in the orifices of the aorta and pulmonary artery is revealed, associated with a decrease in the elasticity of the vessels and depending on the severity of the deformity. Changes in the geometry of the heart are characterized by a compensatory increase in the size of the left ventricle in diastole or systole, as a result of which the cavity acquires a spherical shape. Similar processes are observed from the side of the right heart and the mouth of the pulmonary artery.

Metabolic cardiomyopathy: cardialgia, cardiac arrhythmias, disturbances in repolarization processes (I degree: increase in the amplitude of T V2-V3, syndrome T V2> T V3; II degree: T inversion, ST V2-V3 displacement downward by 0.5–1.0 mm; III degree : T inversion, ST oblique offset up to 2.0 mm). The development of metabolic cardiomyopathy is determined by the influence of cardiac factors (valvular syndrome, variants of the thoracodiaphragmatic heart) and extracardiac conditions (thoracodiaphragmatic syndrome, autonomic dysfunction syndrome, vascular syndrome, deficiency of micro- and macroelements). Cardiomyopathy in connective tissue dysplasia does not have specific subjective symptoms and clinical manifestations; at the same time, it potentially determines an increased risk of sudden death at a young age with a predominant role in the thanatogenesis of arrhythmic syndrome.

Arrhythmic syndrome: ventricular premature beats various gradations; multifocal, monomorphic, less often polymorphic, monofocal atrial premature beats; paroxysmal tachyarrhythmias; pacemaker migration; atrioventricular and intraventricular blockade; anomalies of impulse conduction along additional paths; ventricular pre-excitation syndrome; Q-T interval lengthening syndrome. The frequency of detection of arrhythmic syndrome is about 64%. The source of heart rhythm disturbances may be a focus of disturbed metabolism in the myocardium. When the structure and function of connective tissue is disturbed, a similar substrate of biochemical genesis is always present. Valvular syndrome can be the cause of cardiac arrhythmias in connective tissue dysplasia. The occurrence of arrhythmias in this case may be due to a strong tension of the mitral valves containing muscle fibers capable of diastolic depolarization with the formation of bioelectric instability of the myocardium. In addition, a sharp discharge of blood into the left ventricle with prolonged diastolic depolarization can contribute to the appearance of arrhythmias. Changes in the geometry of the chambers of the heart can also play a role in the occurrence of arrhythmias during the formation of a dysplastic heart, especially the thoracodiaphragmatic variant of the cor pulmonale. In addition to cardiac causes of the origin of arrhythmias in connective tissue dysplasia, there are also extracardiac ones, caused by a violation of the functional state of the sympathetic and vagus nerves, mechanical irritation of the cardiac shirt by the deformed skeleton of the chest. One of the arrhythmogenic factors may be magnesium deficiency, which is detected in patients with connective tissue dysplasia.

Sudden death syndrome: changes in the cardiovascular system in connective tissue dysplasia, which determine the pathogenesis of sudden death - valvular, vascular, arrhythmic syndromes. According to observations, in all cases, the cause of death is directly or indirectly associated with morphofunctional changes in the heart and blood vessels: in some cases it is caused by a gross vascular pathology, which is easy to ascertain at an autopsy (rupture of aneurysms of the aorta, cerebral arteries, etc.), in other cases, sudden death caused by factors that are difficult to verify on the section table (arrhythmic death).

Bronchopulmonary syndrome: tracheobronchial dyskinesia, tracheobronchomalacia, tracheobronchomegaly, ventilation disorders (obstructive, restrictive, mixed disorders), spontaneous pneumothorax. Modern authors describe bronchopulmonary disorders in connective tissue dysplasia as genetically determined disorders of the architectonics of lung tissue in the form of destruction of interalveolar septa and underdevelopment of elastic and muscle fibers in small bronchi and bronchioles, leading to increased extensibility and decreased elasticity of lung tissue. Changes in the functional parameters of the respiratory system in connective tissue dysplasia depend on the presence and degree of deformity of the chest, spine and is more often characterized by a restrictive type of ventilation disorders with a decrease in the total lung capacity. Residual lung volume in many patients with connective tissue dysplasia does not change or slightly increases without changing the ratio of forced expiratory volume in the first second and forced vital capacity. Some patients have obstructive disorders, the phenomenon of bronchial hyperreactivity, which has not yet found an unambiguous explanation. Patients with connective tissue dysplasia represent a group with a high risk of associated pathology, in particular, pulmonary tuberculosis.

Syndrome of immunological disorders: immunodeficiency syndrome, autoimmune syndrome, allergic syndrome. The functional state of the immune system in connective tissue dysplasia is characterized by both activation of immune mechanisms that maintain homeostasis and their insufficiency, leading to a violation of the ability to adequately free the body from foreign particles and, consequently, to the development of recurrent infectious and inflammatory diseases of the bronchopulmonary system. Immunological disorders in some patients with connective tissue dysplasia include an increase in the level of immunoglobulin E in the blood. In general, the literature data on disorders in the immune system in various clinical variants of connective tissue dysplasia are ambiguous, often contradictory, which requires further study. Until now, the mechanisms of the formation of immune disorders in connective tissue dysplasia remain practically unexplored. The presence of immune disorders, concomitant with bronchopulmonary and visceral syndromes of connective tissue dysplasia, increases the risk of associated pathology of the corresponding organs and systems.

Visceral Syndrome: nephroptosis and dystopia of the kidneys, ptosis of organs gastrointestinal tract, pelvic organs, dyskinesia of the gastrointestinal tract, duodenogastric and gastroesophageal refluxes, sphincter failure, esophageal diverticula, hiatal hernia; ptosis of the genitals in women.

Syndrome of pathology of the organ of vision: myopia, astigmatism, hyperopia, strabismus, nystagmus, retinal detachment, dislocation and subluxation of the lens. Disorders of accommodation are manifested in different periods of life, in the majority of the surveyed - in school years (8-15 years) and progresses to 20-25 years.

Hemorrhagic hematomesenchymal dysplasias: hemoglobinopathies, Randu-Osler-Weber syndrome, recurrent hemorrhagic (hereditary platelet dysfunction, von Willebrand syndrome, combined variants) and thrombotic (platelet hyperaggregation, primary antiphospholipid syndrome, hyperhomocysteinemia, factor Ca resistance) to activated protein syndrome.

Foot pathology syndrome: clubfoot, flat feet (longitudinal, transverse), hollow foot. Foot pathology syndrome is one of the earliest manifestations of connective tissue failure. The most common is a transversely spread foot (transverse flatfoot), in some cases combined with a deviation of 1 toe outward (hallus valgus) and longitudinal flat feet with pronation of the foot (flat-valgus foot). The presence of foot pathology syndrome further reduces the possibility of physical development of patients with connective tissue dysplasia, forms a certain stereotype of life, and aggravates psychosocial problems.

Joint hypermobility syndrome: instability of the joints, dislocations and subluxations of the joints. Syndrome of hypermobility of joints in most cases is determined already in early childhood. The maximum joint hypermobility is observed at the age of 13-14 years, by the age of 25-30, the prevalence decreases by 3-5 times. The incidence of joint hypermobility is significantly higher among patients with severe connective tissue dysplasia.

Vertebral syndrome: juvenile osteochondrosis of the spine, instability, intervertebral hernia, vertebrobasillar insufficiency; spondylolisthesis. Developing in parallel with the development of thoracodiaphragmatic syndrome and hypermobility syndrome, vertebrogenic syndrome significantly aggravates their consequences.

Cosmetic syndrome: dysplastic-dependent dysmorphia of the maxillofacial region (malocclusion, gothic palate, pronounced asymmetries of the face); O- and X-shaped deformities of the limbs; changes in the skin (thin translucent and easily vulnerable skin, increased elasticity of the skin, seam in the form of "tissue paper"). The cosmetic syndrome of connective tissue dysplasia is significantly aggravated by the presence of small developmental anomalies, which are detected in the vast majority of patients with connective tissue dysplasia. At the same time, the vast majority of patients have 1–5 microanomalies (hypertelorism, hypotelorism, crumpled auricles, large protruding ears, low hair growth on the forehead and neck, torticollis, diastema, abnormal tooth growth, etc.).

Mental disorders: neurotic disorders, depression, anxiety, hypochondria, obsessive-phobic disorders, anorexia nervosa. It is known that patients with connective tissue dysplasia form a group of increased psychological risk characterized by a reduced subjective assessment of one's own capabilities, the level of claims, emotional stability and performance, an increased level of anxiety, vulnerability, depression, conformism. The presence of dysplastic-dependent cosmetic changes in combination with asthenia form the psychological characteristics of these patients: low mood, loss of pleasure and interest in activities, emotional lability, pessimistic assessment of the future, often with ideas of self-flagellation and suicidal thoughts. A natural consequence of psychological distress is the limitation of social activity, a deterioration in the quality of life and a significant decrease in social adaptation, which are most relevant in adolescence and young age.

Since the phenotypic manifestations of connective tissue dysplasia are extremely diverse and practically do not lend themselves to any unification, and their clinical and prognostic significance is determined not only by the severity of a particular clinical sign, but also by the nature of the "combinations" of dysplastic-dependent changes, it is most optimal to use the terms "undifferentiated connective dysplasia. tissue ", which determines the variant of connective tissue dysplasia with clinical manifestations that do not fit into the structure of hereditary syndromes, and" differentiated connective tissue dysplasia, or a syndromic form of connective tissue dysplasia. " Almost all clinical manifestations of connective tissue dysplasia have their place in the International Classifier of Diseases (ICD 10). Thus, the practitioner has the opportunity to determine the code of the leading manifestation (syndrome) of connective tissue dysplasia at the time of treatment. In this case, in the case of an undifferentiated form of connective tissue dysplasia, when formulating the diagnosis, all the connective tissue dysplasia syndromes in the patient should be indicated, thus forming a "portrait" of the patient, understandable to any doctor of subsequent contact.

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Check if your ears will curl up into a tube?

Sometimes, refusing to perceive anything by ear, our ears curl up into a tube, in a figurative sense, of course. Meanwhile, there are many people who with extraordinary ease can perform such a procedure due to the extreme flexibility of the cartilage of the auricle. To one degree or another, such people without special training can demonstrate entertaining "tricks" with the flexibility of their joints, while arousing the admiration of others.
However, a professional doctor, seeing this, will be more alert than surprised by such a talent.

For more scientific information on this clinical problem in children, see page "Disorders of the formation of connective tissue in children as a consequence of magnesium deficiency" my site (compiled from the portal page "Therapist").

As a rule, it is typical for such people. The term " dysplasia"Denotes improper formation, development, in this particular case, of connective tissue.
Connective tissue is widely represented in our body. It is present in the skin, cartilage, tendons, ligaments, blood vessels, and muscles, including the heart.
Collagen- the main protein in the composition of connective tissue fibers. Today it is known 14 types of collagen, the process of its synthesis (that is, formation) is complex, and if mutations occur, then abnormal collagen is formed. If the mutations are severe, the inherited defects are very strong, organ damage is significant. Geneticists are engaged in such people.

Much more common are mutations when individual traits are inherited, for example, excessively movable joints.
In the family, this trait is inherited, often other signs join it - vulnerability and excessive stretching of the skin, ligaments, scoliosis, myopia... There are many people with connective tissue dysplasia, and abnormal collagen is not so harmless.
Indeed, such patients are common. As a rule, they are young and energetic, they are actively involved in sports, but at the same time they are full of anxiety and bewilderment because of the feeling of health problems. Here is a typical example from medical practice.
The patient is tall, thin, fair-haired, blue-eyed. “Doctor, it seems to me that something is wrong with me,” he says hesitantly. “I’m only 30, and my joints already hurt, they also crunch terribly. The right ankle is constantly dislocated. Stooped since childhood, I have been in the gym for two years, but I haven’t pumped up my muscles, only my veins have come out. There is something wrong with the skin, constantly abrasions, cuts. Imagine, yesterday I cut myself a page in the book! Yes, my heart still began to ache. I have already been to several doctors, diagnoses are dark, but they say that they seem to be healthy !? ”.

Inspection data: the skin is thin, transparent, with translucent blue veins, in some places small spots are noticeable - bruises of various degrees of prescription. The chest is narrow and long, the clavicles and sternum protrude, corns are visible on the feet - a sign of transverse flat feet.
Extracts from the medical history - the conclusion of the ophthalmologist: high myopia. The surgeon states varicose veins. According to the electrocardiogram (ECG) - a violation in the conduction system of the heart, according to ultrasound location of the heart (ultrasound) - mitral valve prolapse and additional chords in the cavity of the left ventricle. And also a neurologist, ENT ... It is not difficult to assume the presence of gastritis, hernia, constriction in the gallbladder or a prolapse of the kidney. Just a bunch of diseases!

You have not yet had a question: how can you live with all this?
It turns out that it is possible, moreover, quite normal, active life... Insofar as connective tissue dysplasia- a genetically determined and systemic disease, often many doctors classify such patients as conditionally healthy individuals, however, with certain congenital abnormalities. Conceptually, one can agree with colleagues, if only because so far there are no methods of effective care for such patients in the arsenal of doctors. At the same time, people with connective tissue dysplasia need comprehensive and systematic monitoring of the state of organs and tissues, which are the main targets of this disease.

Most often this applies to vision ( myopia, astigmatism, retinal disinsertion), joints and bones (subluxations and dislocations, early arthrosis, osteochondrosis, osteoporosis). However, the most dangerous complications are from the cardiovascular system. With dysplasia of connective tissue, cardiac arrhythmias and the propagation of an electrical impulse through the myocardium occur. Particular attention should be paid to the valvular apparatus of the heart and the presence of additional chords, otherwise, abnormal connective tissue cords in the chambers of the heart, connecting different regions of the heart wall.

The role of the additional chords in the heart is not yet fully understood. It can only be assumed that in this way nature took care of the strength of the structure of the chambers in the event of an insufficiency of the connective tissue frame of the heart. This is probably similar to how strength problems are solved in technology, for example, by introducing multiple transverse baffles into bridge trusses or crane jibs.
However, in terms of function, any technical prototype is far from our hearts. We can only wonder at the perfection of this organ!
At the same time, it is not difficult to assume that the presence of additional elements in the heart structure will certainly affect its functioning. And indeed it is!
Individuals with connective tissue dysplasia have characteristics kinematics of the heart wall, which are fundamentally different from the mechanical behavior of the myocardium in healthy people. In such a situation, it is important to understand what contribution the additional chords make to the heart's main pumping function. It is necessary to clearly understand what reserves such a heart uses to adapt to physical activity.
According to observations, early expenditure of adaptive reserves by the heart is characteristic of individuals with connective tissue dysplasia. In other words, the primary task of the doctor is not to miss that line of the heart's capabilities, beyond which, at first glance, there is a small problem. can develop into an irreversible catastrophe.

It should be emphasized that in parents with signs of connective tissue dysplasia, children are the same carriers of signs of dysplasia. Slender, flexible children are often directed by parents to study ballet, dance or figure skating. Tall, thin teenagers play volleyball, basketball. Moreover, in sports, such people sometimes reach significant heights. Have you ever wondered at what price records are given to your child?
Have you thought about learning more about yourself before exposing yourself and your loved ones to excessive stress and trials?

Be attentive to yourself, PEOPLE, who can easily roll their ears into a tube!

E.G. Martemyanova, therapist of the Preobrazhenskaya clinic.
Based on materials from the site www.pr-clinica.ru

V recent times O connective tissue dysplasia they talk and write a lot.
As a rule, these are scientific articles and reviews in which complex terms prevail, and which practitioners do not read to the end. Meanwhile, the problem exists, and the problem is very interesting.
What is connective tissue dysplasia or DST?

As is known, connective tissue consists of cells, fibers and intercellular substance. It is also well known that it is dense and loose and is widespread in the body everywhere - skin, bones, cartilaginous tissue, vascular wall, organ stroma and even blood - everything is based on elements of connective tissue.
The connective tissue structure is well studied, and all biochemical structures have been identified. Advances in molecular genetics have made it possible to determine the types, structure and localization of genes responsible for the synthesis of various elements. First of all, we will be interested in connective tissue fibers - collagen, the main function of which is to maintain shape, and elastin, which provides the ability to contract and relax.

DST is a genetically determined process, i.e. at the heart of everything are mutations in genes responsible for the synthesis of fibers. Mutations can be very diverse and in a wide variety of genes. Why they arise, it is better to clarify with geneticists.
As a result of mutations, collagen chains are not formed correctly. They are either shorter (deletion), sometimes longer (insertion), or the wrong amino acid is included in them (point mutation). The so-called abnormal collagen trimers that do not withstand the proper mechanical stress. It's the same with elastin.

The clinical picture will be determined by the number and quality of mutations. It is likely that the presence of functionally defective fibers will not manifest itself at first. But pathological gene material accumulates in generations, and family members have one or the other characteristic feature DST... While these signs are few, they are perceived as an individual feature, without attracting the attention of doctors and patients.
Unfortunately, to manifestations of DST are not only specific appearance and cosmetic defects, but also severe pathological changes in internal organs and the musculoskeletal system.

So to clinical and morphological manifestations of DST relate:

• Skeletal changes: asthenic physique, dolichostenomelia(disproportionately long limbs), arachnodactyly(long thin fingers), various types chest deformities, scoliosis, kyphosis and lordosis of the spine, straight back syndrome, flat feet and etc.
  These changes are associated with a violation of the structure of the cartilage and a delay in the maturation of the epiphyseal growth zone, which is manifested by the elongation of the tubular bones. The deformities of the chest are based on the inferiority of the costal cartilage.
• Changes in the skin: hyperelasticity, thinning, a tendency to trauma and the formation of keloids or "tissue paper" scars.
• Muscular system changes: decrease muscle mass, including the cardiac and oculomotor muscles, which leads to a decrease in myocardial contractility and myopia.
• Joint pathology: excessive mobility (hypermobility), a tendency to dislocation and subluxation, due to the weakness of the ligamentous apparatus.
• Pathology of the organs of vision: one of the most common manifestations of DST, represented by myopia of varying degrees, dislocation of the lens, an increase in the length of the eyeball, flat cornea, blue sclera syndrome.
• Damage to the cardiovascular system are very diverse and often determine the forecast. Usually, anatomical changes in the heart valves are diagnosed: dilatation of the fibrous rings and prolapses, abnormal chords, expansion of the ascending aorta and pulmonary artery, followed by the formation of saccular aneurysm.
  Besides, deformities of the chest and spine lead to development different types thoracodiaphragmatic heart.
• Vascular lesion manifests itself aneurysmal dilatation of medium and small arteries and - very often - varicose veins of the lower extremities
• Bronchopulmonary lesions concern both the bronchial tree and the alveoli.
  Most often diagnosed bronchiectasis, simple and cystic hypoplasia, bullous emphysema and spontaneous pneumothorax.
• Kidney pathology includes nephroptosis and renovascular changes.

The list goes on and on. For example, early caries and generalized periodontal disease dentists also began to explain from the standpoint of fibrillogenesis disorders.
It is difficult to say which system will be most interested. The situation is extremely aggravated by the pathological functioning of the autonomic nervous system, the development of functional disorders and the addition of a secondary, but associated with DST, pathology.

Now let's imagine a typical dysplastic patient.
This is a man of asthenic constitution, thin, very stooped, with long arms and legs, a deformed, asymmetrical chest, usually with flat feet, bad teeth and glasses.
Most minor developmental anomalies (they are stigma of dysembryogenesis) will be presented to him. If you have met such a patient, feel free to ask when he was diagnosed with mitral valve prolapse, what degree of nephroptosis was put on ultrasound and whether his mother had severe varicose veins. The effect of such "shamanism" is simply amazing!

As you know, THERE ARE LOTS OF SUCH PATIENTS AND VERY MANY! .
They get sick at once for everyone and are observed at once by all specialists of the polyclinic... Specialists, as it should be, diagnose a variety of isolated nosological forms and put the patient on their dispensary records. As a rule, the tortured patient stops listening to doctors or falls into hypochondria. With the revival of family medicine, there is hope that at least someone will take care of such a patient, and not in parts, but as a whole.

The question is, what to do with it?

At first, in order to prevent severe manifestations of CTD, one has to talk about reasonable family planning. Two dysplastics cannot have a perfectly healthy baby. And it will not be just "eyes like mom's, but teeth like daddy's" or "everyone in our family is like that", this may turn out to be the most severe visceral pathology with an extremely poor prognosis.

Secondly, any unusual current diseases in children with heredity, burdened by DST, should alert the doctor and demand an explanation. This is especially true of the bad memory of chronic pneumonia, and in general, frequent inflammatory diseases of the respiratory tract. It is difficult to decide on a bronchoscopy in a small child, but take a closer look at his parents and clarify the pedigree - indications may appear, and you will win what is necessary for correct treatment time.

Thirdly, it must be remembered that such patients require special vigilance in terms of the atypical and severe course of concomitant pathology due to disorders in the immune system.

Fourth By eliminating gross morphological changes in internal organs in a patient with DST, it will be easier for you to explain the abundance of various complaints and functional disorders.

And the most important thing: fully formed dysplasia is difficult to combat. No pills for defective molecules have been invented. But you can see signs of dysplasia in a small child (clear signs appear by the age of 5) and, with proper rehabilitation therapy, prevent its progression. It's totally real.

Department of Internal Medicine and Family Medicine. Omsk State Medical Academy, postgraduate Maria Vershinina.

Connective tissue dysplasia: main clinical syndromes, diagnosis formulation, treatment

G.I. Nechaeva, V.M. Yakovlev, V.P. Konev, I.V. Druk, S.L. Morozov

Connective tissue dysplasia (DST)(dis - disorders, рlasia - development, education) - a violation of the development of connective tissue in the embryonic and postnatal periods, a genetically determined condition characterized by defects in fibrous structures and the basic substance of connective tissue, leading to a disorder of homeostasis at the tissue, organ and organism levels in the form of various morphofunctional disorders of visceral and locomotor organs with a progressive course, which determines the features of the associated pathology, as well as the pharmacokinetics and pharmacodynamics of drugs

Data on prevalence of DST itself contradictory due to different classification and diagnostic approaches. The prevalence of individual signs of CTD has gender and age differences. According to the most modest data DST prevalence rates at least correlate with the prevalence of major socially significant noncommunicable diseases.

DST is morphologically characterized by changes in collagen, elastic fibrils, glycoproteins, proteoglycans and fibroblasts, which are based on inherited mutations in genes encoding collagen synthesis and spatial organization, structural proteins and protein-carbohydrate complexes, as well as mutations in the genes of enzymes and cofactors to them.
Some researchers, based on the magnesium deficiency in various substrates (hair, erythrocytes, oral fluid), detected in 46.6-72.0% of cases with CTD, admit pathogenetic significance of hypomagnesemia.

One of the fundamental characteristics of connective tissue dysplasia as a dysmorphogenetic phenomenon is phenotypic signs of CTD may be absent at birth or have a very insignificant severity (even in cases of differentiated forms of DST) and, like the image on photographic paper, manifest itself throughout life. Over the years, the number of signs of DST and their severity grows progressively.

DST classification is one of the most controversial scientific issues.
The lack of a unified, generally accepted classification of DST reflects the disagreement among researchers on this issue as a whole. DST can be classified based on a genetic defect during the period of collagen synthesis, maturation or breakdown. This is a promising classification approach, which makes it possible to substantiate the genetically differentiated diagnosis of CTD, but today this approach is limited to hereditary CTD syndromes.

TI Kadurina (2000) distinguishes the MASS phenotype, the Marfanoid and Eler-like phenotypes, noting that these three phenotypes are the most common forms of non-syndromic DST.
This proposal is very tempting due to its simplicity and the original idea that non-syndromic forms of CTD are “phenotypic” copies of known syndromes.
So, " marfanoid phenotype"Is characterized by a combination of" signs of generalized connective tissue dysplasia with asthenic physique, dolichostenomelia, arachnodactyly, damage to the valvular apparatus of the heart (and sometimes the aorta), visual impairment. "
At " eler-like phenotype"It is noted" a combination of signs of generalized connective tissue dysplasia with a tendency to hyper-extensibility of the skin and varying degrees of severity of hypermobility of the joints. " The "MASS-like phenotype" is characterized by "signs of generalized connective tissue dysplasia, a number of cardiac abnormalities, skeletal abnormalities, as well as skin changes in the form of thinning or the presence of areas of subatrophy." On the basis of this classification, it is proposed to formulate the diagnosis of CTD.

Considering that the classification of any pathology carries an important "applied" meaning - it is used as a basis for formulating a diagnosis, the solution of classification issues is very important from the point of view of clinical practice.

There are no universal pathological lesions of connective tissue that would form a specific phenotype. Each defect in each patient is unique in its own way. At the same time, the all-encompassing distribution of connective tissue in the body determines the multiorganism of lesions in DST. In this regard, a classification approach is proposed with the isolation of syndromes associated with dysplastic-dependent changes and pathological conditions.

Neurological Disorder Syndrome: syndrome of autonomic dysfunction (vegetative-vascular dystonia, panic attacks, etc.), hemicrania.

Autonomic dysfunction syndrome is formed in a significant number of patients with CTD one of the very first - already in early childhood and is considered as an obligatory component of the dysplastic phenotype.
In most patients, sympathicotonia is detected, the mixed form is less common, in a small percentage of cases - vagotonia. The severity of the clinical manifestations of the syndrome increases in parallel with the severity of CTD. Autonomic dysfunction is observed in 97% of cases of hereditary syndromes, with an undifferentiated form of DST - in 78% of patients. In the formation of autonomic disorders in patients with DST, genetic factors undoubtedly play a role in the disruption of the biochemistry of metabolic processes in the connective tissue and the formation of morphological substrates, leading to a change in the function of the hypothalamus, pituitary gland, gonads, and the sympathetic-adrenal system.

Asthenic syndrome: decreased performance, deterioration in the tolerance of physical and psycho-emotional stress, increased fatigue.

Asthenic syndrome it comes to light in preschool and especially brightly - in school, adolescence and young age, accompanying patients with DST throughout their lives. The dependence of the severity of clinical manifestations of asthenia on the age of patients is noted: the older the patients, the more subjective complaints.

Valvular Syndrome: isolated and combined prolapse of heart valves, myxomatous degeneration of valves.

More often it is presented mitral valve prolapse (MVP)(up to 70%), less often - prolapsed tricuspid or aortic valves, enlargement of the aortic root and the pulmonary trunk; Valsalva sinus aneurysms.
In some cases, the revealed changes are accompanied by the phenomena of regurgitation, which is reflected in the indicators of myocardial contractility and volumetric parameters of the heart. Durlach J. (1994) suggested that the cause of MVP in DST may be magnesium deficiency.

Valve syndrome also begins to form in childhood (4–5 years). Auscultatory signs of MVP are detected at different ages: from 4 to 34 years, but most often - at the age of 12-14 years.
It should be noted that echocardiographic data are in a dynamic state: more pronounced changes are noted during subsequent examinations, which reflects the effect of age on the state of the valve apparatus. In addition, the severity of DST and the volume of the ventricles affect the severity of valvular changes.

Thoracodiaphragmatic syndrome: asthenic form of the chest, chest deformities (funnel-shaped, keeled), spinal deformities (scoliosis, kyphoscoliosis, hyperkyphosis, hyperlordosis, etc.), changes in standing and excursions of the diaphragm.

Among patients with CTD, the most common funnel chest deformity, in second place in frequency - keeled deformation and most rarely detected asthenic chest.

Start formation of thoracodiaphragmatic syndrome falls on early school age, the distinctness of manifestations - at the age of 10-12 years, the maximum severity - for the period of 14-15 years. In all cases funnel deformation noted by doctors and parents 2-3 years earlier than keeled.

Availability thoracodiaphragmatic syndrome determines a decrease in the respiratory surface of the lungs, deformation of the lumen of the trachea and bronchi; displacement and rotation of the heart, "torsion" of the main vascular trunks. Qualitative (deformation variant) and quantitative (deformation degree) characteristics of thoracodiaphragmatic syndrome determine the nature and severity of changes in the morphofunctional parameters of the heart and lungs.
Deformations of the sternum, ribs, spine and the associated high standing of the diaphragm lead to a decrease in the chest cavity, an increase in intrathoracic pressure, disrupt the flow and outflow of blood, and contribute to the occurrence of cardiac arrhythmias. The presence of thoracodiaphragmatic syndrome can lead to an increase in pressure in the system of the pulmonary circulation.

Vascular Syndrome: damage to the elastic type arteries: idiopathic expansion of the wall with the formation saccular aneurysm; damage to arteries of muscular and mixed types: bifurcation-hemodynamic aneurysms, dolichoectasias of elongated and local enlargements of the arteries, pathological tortuosity up to loop formation; defeat of the veins (pathological tortuosity, varicose veins of the upper and lower extremities, hemorrhoids and other veins); telangiectasia; endothelial dysfunction.

Vascular changes are accompanied by an increase in tone in the system of large, small arteries and arterioles, a decrease in the volume and rate of filling of the arterial bed, a decrease in venous tone and excessive blood deposition in peripheral veins.

Vascular syndrome usually manifests in adolescence and young age, progressing with increasing age of patients.

Blood pressure changes: idiopathic arterial hypotension

Thoracodiaphragmatic heart: asthenic, constrictive, false-tenotic, pseudodilation variants, thoracodiaphragmatic cor pulmonale.

Formation of the thoracodiaphragmatic heart occurs in parallel with the manifestation and progression of deformity of the chest and spine, against the background of valvular and vascular syndromes.
Variants of the thoracodiaphragmatic heart serve as a reflection of the violation of the harmony of the relationship between the weight and volume of the heart, the weight and volume of the whole body, the volume of the heart and the volume of large arterial trunks against the background of dysplastic-dependent disorganization of the growth of tissue structures of the myocardium itself, in particular, its muscle and nerve elements.

In patients with a typical asthenic constitution, asthenic variant of the thoracodiaphragmatic heart characterized by a decrease in the size of the heart chambers with "normal" systolic and diastolic wall thickness and interventricular septum, "normal" indicators of myocardial mass, - the formation of a true small heart.
The contractile process in this situation is accompanied by an increase in circular stress and intramyocardial tension in the circular direction towards systole, which indicated the hyperreactivity of compensatory mechanisms against the background of predominant sympathetic influences. It was found that the defining factors in the change in morphometric, volumetric, contractile and phase parameters of the heart are the shape of the chest and the level of physical development of the musculoskeletal system.

Some patients with pronounced form of DST and various variants of chest deformity (funnel-shaped deformity of I, II degrees) in conditions of a decrease in the volume of the chest cavity is observed "Pericarditis-like" situation with development dysplastic-dependent constrictive heart.
A decrease in the maximum size of the heart with a change in the geometry of the cavities is hemodynamically unfavorable, accompanied by a decrease in the thickness of the myocardial walls in systole. With a decrease in the stroke volume of the heart, a compensatory increase in the total peripheral resistance occurs.

A number of patients with deformity of the chest (funnel-shaped deformity of the III degree, keeled deformity) when the heart is displaced, when it "leaves" from the mechanical effects of the chest skeleton, rotating and accompanied by a "torsion" of the main vascular trunks, it forms pseudostenotic variant of the thoracodiaphragmatic heart... "Syndrome of stenosis" of ventricular exit is accompanied by an increase in the tension of myocardial structures in the meridional and circular directions, an increase in the systolic tension of the myocardial wall with an increase in the duration of the preparatory period for expulsion, and an increase in pressure in the pulmonary artery.

In patients with keeled chest deformity II and III degree comes to light enlargement of the orifices of the aorta and pulmonary artery associated with a decrease in the elasticity of blood vessels and depending on the severity of the deformity.
Changes in the geometry of the heart are characterized by a compensatory increase in the size of the left ventricle in diastole or systole, as a result of which the cavity acquires a spherical shape. Similar processes are observed from the side of the right heart and the mouth of the pulmonary artery. Formed pseudodilatory variant of the thoracodiaphragmatic heart.

In the group of patients with differentiated DST (syndromes of Marfan, Ehlers-Danlos, Stickler, osteogenesis imperfecta), as well as in patients with undifferentiated DST with a combination of pronounced deformities of the chest and spine, morphometric changes in the right and left ventricles of the heart coincide: the long axis and the area of ​​the ventricular cavities decrease, especially at the end of diastole, reflecting a decrease in myocardial contractility; end-and mid-diastolic volumes decrease.
A compensatory decrease in total peripheral vascular resistance is observed, depending on the degree of decrease in myocardial contractility, the severity of deformities of the chest and spine. The steady increase in pulmonary vascular resistance leads in this case to the formation thoracodiaphragmatic pulmonary heart.

Metabolic cardiomyopathy: cardialgia, cardiac arrhythmias, disturbances in repolarization processes (I degree: increase in the amplitude of T V2-V3, syndrome T V2> T V3; II degree: T inversion, ST V2-V3 displacement downward by 0.5–1.0 mm; III degree: T inversion, ST oblique offset up to 2.0 mm)

Development metabolic cardiomyopathy determined by the influence of cardiac factors (valvular syndrome, variants of the thoracodiaphragmatic heart) and extracardiac conditions ( thoracodiaphragmatic syndrome, autonomic dysfunction syndrome, vascular syndrome, deficiency of micro- and macroelements).
Cardiomyopathy in DST does not have specific subjective symptoms and clinical manifestations, at the same time potentially determines an increased risk of sudden death at a young age with a predominant role in the thanatogenesis of arrhythmic syndrome.

Arrhythmic syndrome: ventricular premature beats of various gradations; multifocal, monomorphic, less often polymorphic, monofocal atrial premature beats; paroxysmal tachyarrhythmias; pacemaker migration; atrioventricular and intraventricular blockade; anomalies of impulse conduction along additional paths; ventricular pre-excitation syndrome; Q-T interval lengthening syndrome.

The frequency of detection of arrhythmic syndrome is about 64%. The source of heart rhythm disturbances may be a focus of disturbed metabolism in the myocardium. When the structure and function of connective tissue is disturbed, a similar substrate of biochemical genesis is always present.
The reason cardiac arrhythmias in DST valvular syndrome can serve. The occurrence of arrhythmias in this case may be due to a strong tension of the mitral valves containing muscle fibers capable of diastolic depolarization with the formation of bioelectric instability of the myocardium.
In addition, a sharp discharge of blood into the left ventricle with prolonged diastolic depolarization can contribute to the appearance of arrhythmias. Changes in the geometry of the chambers of the heart can also play a role in the occurrence of arrhythmias during the formation of a dysplastic heart, especially the thoracodiaphragmatic variant of the cor pulmonale.
In addition to the cardiac causes of arrhythmias in DST, there are also extracardiac ones, caused by a violation of the functional state of the sympathetic and vagus nerves, mechanical irritation of the cardiac shirt by the deformed bone of the chest.
One of arrhythmogenic factors may be magnesium deficiency detected in patients with CTD. In previous studies by Russian and foreign authors, convincing data were obtained on the causal relationship between ventricular and atrial arrhythmias and intracellular magnesium content.
It is assumed that hypomagnesemia can contribute to the development of hypokalemia... At the same time, the resting membrane potential increases, the processes of depolarization and repolarization are disrupted, and the excitability of the cell decreases. The conductivity of the electrical impulse slows down, which contributes to the development of arrhythmias. On the other hand, intracellular magnesium deficiency increases the activity of the sinus node, reduces the absolute and lengthens the relative refractoriness.

Sudden death syndrome: changes in the cardiovascular system during CTD, which determine the pathogenesis of sudden death - valvular, vascular, arrhythmic syndromes.
According to observations, in all cases, the cause of death is directly or indirectly associated with morphofunctional changes in the heart and blood vessels: in some cases it is caused by a gross vascular pathology, which is easy to ascertain at an autopsy (rupture of aneurysms of the aorta, cerebral arteries, etc.), in other cases, sudden death caused by factors that are difficult to verify on the breakout table ( arrhythmic death).

Bronchopulmonary syndrome: tracheobronchial dyskinesia, tracheobronchomalacia, tracheobronchomegaly, ventilation disorders (obstructive, restrictive, mixed disorders), spontaneous pneumothorax.

Bronchopulmonary disorders in DST modern authors describe as genetically determined violations of the architectonics of lung tissue in the form of destruction of interalveolar septa and underdevelopment of elastic and muscle fibers in small bronchi and bronchioles, leading to increased extensibility and reduced elasticity of lung tissue.
It should be noted that according to classification of respiratory diseases in children adopted at the Meeting of Pediatric Pulmonologists of the Russian Federation (Moscow, 1995), such "special" cases of DST of the respiratory organs, such as tracheobronchomegaly, tracheobronchomalacia, bronchiectatic emphysema, as well as Williams-Campbell syndrome, are today interpreted as malformations of the trachea, bronchi, lungs ...

Changes in the functional parameters of the respiratory system during DST depends on availability and degree chest deformities, spine and is more often characterized by a restrictive type of ventilation disorders with a decrease in the total lung capacity (OEL).
Residual lung volume (OBV) in many patients with CTD does not change or slightly increases without changing the ratio of forced expiratory volume in the first second (FEV1) and forced vital capacity (FVC). Some patients have obstructive disorders, the phenomenon of bronchial hyperreactivity, which has not yet found an unambiguous explanation. Patients with CTD represent a group with a high risk of associated pathology, in particular, pulmonary tuberculosis.

Syndrome of immunological disorders: immunodeficiency syndrome, autoimmune syndrome, allergic syndrome.

The functional state of the immune system in DST characterized by both activation of immune mechanisms that maintain homeostasis and their insufficiency, leading to impaired ability to adequately free the body from foreign particles and, consequently, to the development of recurrent infectious and inflammatory diseases of the bronchopulmonary system.
Immunological disorders in some patients with CTD include an increase in the level of immunoglobulin E in the blood. In general, the literature data on disorders in the immune system in various clinical variants of DST are ambiguous, often contradictory, which requires further study. They still remain practically unexplored mechanisms of formation of immune disorders in DST... The presence of immune disorders, concomitant with bronchopulmonary and visceral DST syndromes, increases the risk of associated pathology of the corresponding organs and systems.

Visceral Syndrome: nephroptosis and renal dystopia, ptosis of the gastrointestinal tract, pelvic organs, dyskinesia of the gastrointestinal tract, duodenogastric and gastroesophageal refluxes, sphincter failure, esophageal diverticula, hiatal hernia; ptosis of the genitals in women.

Syndrome of pathology of the organ of vision: myopia, astigmatism, hypermetropia, strabismus, nystagmus, retinal detachment, dislocation and subluxation of the lens.

Disorders of accommodation are manifested in different periods of life, in the majority of the surveyed - in school years (8-15 years) and progresses to 20-25 years.

Hemorrhagic hematomesenchymal dysplasias: hemoglobinopathies, Randu-Osler-Weber syndrome, recurrent hemorrhagic(hereditary platelet dysfunction, von Willebrand syndrome, combined options) and thrombotic (hyperaggregation of platelets, primary antiphospholipid syndrome, hyperhomocysteinemia, factor Va resistance to activated protein C) syndromes.

Foot pathology syndrome: clubfoot, flat feet(longitudinal, transverse), hollow foot.

Foot pathology syndrome is one of the earliest manifestations of connective tissue failure.
Most common transversely spread foot (transverse flat feet), in some cases combined with a deviation of 1 finger outward (hallus valgus) and longitudinal flat feet with pronation of the foot (planovalgus foot).
The presence of foot pathology syndrome further reduces the possibility of physical development of patients with CTD, forms a certain stereotype of life, and aggravates psychosocial problems.

: joint instability, dislocation and subluxation of the joints.

Joint hypermobility syndrome in most cases, it is determined already in early childhood. The maximum joint hypermobility is observed at the age of 13-14 years, by the age of 25-30, the prevalence decreases by 3-5 times. The incidence of joint hypermobility is significantly higher among patients with severe CTD.

Vertebral syndrome: juvenile osteochondrosis of the spine, instability, intervertebral hernia, vertebrobasillar insufficiency; spondylolisthesis.

Developing in parallel with the development of thoracodiaphragmatic syndrome and hypermobility syndrome, vertebrogenic syndrome significantly aggravates their consequences.

Cosmetic syndrome: dysplastic-dependent dysmorphia of the maxillofacial region ( malocclusion, gothic palate, pronounced facial asymmetries); O- and X-shaped deformities of the limbs; changes in the skin (thin translucent and easily vulnerable skin, increased elasticity of the skin, seam in the form of "tissue paper").

Cosmetic DST syndrome is significantly aggravated by the presence of small developmental anomalies detected in the vast majority of patients with CTD. At the same time, the vast majority of patients have 1–5 microanomalies (hypertelorism, hypotelorism, crumpled auricles, large protruding ears, low hair growth on the forehead and neck, torticollis, diastema, abnormal tooth growth, etc.).

Mental disorders: neurotic disorders, depression, anxiety, hypochondria, obsessive-phobic disorders, anorexia nervosa.

It is known that DST patients form a group of increased psychological risk, characterized by a reduced subjective assessment of their own capabilities, the level of claims, emotional stability and performance, an increased level of anxiety, vulnerability, depression, and conformism.
The presence of dysplastic-dependent cosmetic changes in combination with asthenia form the psychological characteristics of these patients: low mood, loss of pleasure and interest in activities, emotional lability, pessimistic assessment of the future, often with ideas of self-flagellation and suicidal thoughts. A natural consequence of psychological distress is the limitation of social activity, a deterioration in the quality of life and a significant decrease in social adaptation, which are most relevant in adolescence and young age.

Insofar as phenotypic manifestations of CTD are extremely diverse and practically do not lend themselves to any unification, and their clinical and prognostic value is determined not only by the severity of a particular clinical sign, but also by the nature of the "combinations" of dysplastic-dependent changes, from our point of view, it is most optimal to use the terms "Undifferentiated connective tissue dysplasia", which determines the variant of DST with clinical manifestations that do not fit into the structure of hereditary syndromes, and "Differentiated connective tissue dysplasia, or syndromic form of DST".
Almost all clinical manifestations of DST have their place in the International Classifier of Diseases (ICD 10). Thus, the practitioner has the opportunity to determine the code of the leading manifestation (syndrome) of DST at the time of treatment. At the same time, in the case of an undifferentiated form of DST, when formulating a diagnosis, all DST syndromes in the patient should be indicated, thus forming a "portrait" of the patient that is understandable to any doctor of subsequent contact.

Diagnosis formulation options.

1. The underlying disease... Wolff-Parkinson-White syndrome (WPW syndrome) (I 45.6) associated with CTD. Paroxysmal atrial fibrillation.

Background disease ... DST:

Thoracodiaphragmatic syndrome: asthenic chest, kyphoscoliosis of the thoracic spine of the II degree. Asthenic variant of the thoracodiaphragmatic heart, mitral valve prolapse of the II degree without regurgitation, metabolic cardiomyopathy of the 1st degree;

Vegetovascular dystonia, cardiac variant;

Myopia of moderate severity in both eyes;

Flat feet longitudinal 2 degrees.

Complications: chronic heart failure (CHF) IIA, FC II.

2. The underlying disease... Mitral valve prolapse of the II degree with regurgitation (I 34.1), associated with a minor anomaly in the development of the heart - an abnormally located chord of the left ventricle.

Background disease ... DST:

Thoracodiaphragmatic syndrome: funnel chest deformity of the II degree. A constrictive variant of the thoracodiaphragmatic heart. Cardiomyopathy 1 degree. Vegetovascular dystonia;

Tracheobronchomalacia. Dyskinesia of the gallbladder and biliary tract. Myopia of moderate severity in both eyes;

Dolichostenomelia, diastasis of the rectus abdominis muscles, umbilical hernia.

Complications of the main : CHF, FC II, respiratory failure (DN 0).

3. The underlying disease... Chronic purulent-obstructive bronchitis (J 44.0) associated with dysplastic-dependent tracheobronchomalacia, exacerbation.

Background disease ... DST:

Thoracodiaphragmatic syndrome: keeled chest deformity, kyphoscoliosis of the thoracic spine, right-sided rib hump; pulmonary hypertension, pulmonary artery dilatation, thoracodiaphragmatic cor pulmonale, mitral and tricuspid valve prolapse, grade II metabolic cardiomyopathy. Secondary immunodeficiency;

Right-sided inguinal hernia.

Complications: pulmonary emphysema, pneumosclerosis, adhesive bilateral pleurisy, DN II degree, CHF IIA, FC IV.

Questions of tactics of managing patients with CTD are also open.
Today there are no unified generally accepted approaches to the treatment of patients with CTD.
Considering that gene therapy is not currently available to medicine, the doctor needs to use any methods that will help stop the progression of the disease. The most acceptable syndromic approach to the choice of therapeutic interventions: correction of the syndrome of autonomic disorders, arrhythmic, vascular, asthenic and other syndromes.

Leading component of therapy there must be non-drug effects aimed at improving hemodynamics (physiotherapy exercises, dosed loads, aerobic regimen).
However, it is often a significant factor limiting the achievement of the target level physical activity in patients with CTD, there is a poor subjective tolerance of training (an abundance of asthenic, vegetative complaints, episodes of hypotension), which reduces the adherence of patients to this type of rehabilitation measures.
So, according to our observations, up to 63% of patients have a low tolerance to physical activity according to veloergometry data, most of these patients refuse to continue the course of physiotherapy exercises (exercise therapy). In this regard, it seems promising to use vegetotropic agents, metabolic drugs in combination with exercise therapy. It is advisable to prescribe magnesium preparations.
The versatility of the metabolic effects of magnesium, its ability to increase the energy potential of myocardiocytes, the participation of magnesium in the regulation of glycolysis, the synthesis of proteins, fatty acids and lipids, the vasodilatory properties of magnesium are widely reflected in numerous experimental and clinical studies.
A number of studies carried out to date have shown the fundamental possibility of eliminating characteristic cardiac symptoms and ultrasound changes in patients with DST as a result of treatment with magnesium preparations.

We conducted a study of the effectiveness of the stage-by-stage treatment of patients with signs of DST: at the first stage, the patients received therapy with the drug "Magnerot", at the second stage, drug treatment added a complex of physiotherapy exercises.
The study included 120 patients with an undifferentiated form of CTD, having low exercise tolerance (according to veloergometry data), aged 18 to 42 years (mean age 30.30 ± 2.12 years), 66 men, 54 women.
Thoracodiaphragmatic syndrome was manifested by funnel chest deformity of various degrees (46 people), keeled chest deformity (49 patients), asthenic chest shape (7 patients), combined changes in the spinal column (85.8%). The valve syndrome was represented by mitral valve prolapse (I degree - 80.0%; II degree - 20.0%) with or without regurgitation (91.7%). In 8 people, enlargement of the aortic root was revealed. As a control group, 30 apparently healthy volunteers corresponding to gender and age were examined.

According to ECG data all patients with CTD showed changes in the terminal part of the ventricular complex: I degree of impairment of repolarization processes was detected in 59 patients; II degree - in 48 patients, III degree was determined less often - in 10.8% of cases (13 people).
The analysis of heart rate variability in patients with CTD compared with the control group demonstrated statistically significantly higher values ​​of average daily indicators - SDNN, SDNNi, RMSSD. When comparing the indicators of heart rate variability with the severity of autonomic dysfunction in patients with CTD, an inverse relationship was revealed - the more pronounced the autonomic dysfunction, the lower the indicators of heart rate variability.

At the first stage of complex therapy, Magnerot was prescribed according to the following scheme: 2 tablets 3 times a day for the first 7 days, then 1 tablet 3 times a day for 4 weeks.

As a result of the treatment, there was a clear positive dynamics in the frequency of cardiac, asthenic and various vegetative complaints presented by patients. The positive dynamics of ECG changes was manifested in a decrease in the incidence of disturbances in the processes of repolarization of the 1st degree (p< 0,01) и II степени (р < 0,01), синусовой тахикардии (р < 0,001), синусовой аритмии (р < 0,05), экстрасистолии (р < 0,01), что может быть связано с уменьшением вегетативного дисбаланса на фоне регулярных занятий лечебной физкультурой и приема препарата магния. После лечения в пределах нормы оказались показатели вариабельности сердечного ритма у 66,7% (80/120) пациентов (исходно - 44,2%; McNemar c2?5,90; р = 0,015). По данным велоэргометрии увеличилась величина максимального потребления кислорода, рассчитанная косвенным методом, что отражало повышение толерантности к физическим нагрузкам. Так, по завершении курса указанный показатель составил 2,87 ± 0,91 л/мин (в сравнении с 2,46 ± 0,82 л/мин до начала терапии, p < 0,05). На втором этапе терапевтического курса проводились занятия ЛФК в течение 6 недель. Планирование интенсивности, длительности аэробной физической нагрузки осуществлялось в зависимости от клинических вариантов недифференцированной ДСТ с учетом разработанных рекомендация. Следует отметить, что абсолютное большинство пациентов завершили курс ЛФК. Случаев досрочного прекращения занятий в связи с плохой субъективной переносимостью отмечено не было.

Based on this observation, a conclusion was made about the safety and efficacy of the magnesium preparation ( Magnerot) in terms of reducing autonomic dysregulation and clinical manifestations of DST, a positive effect on physical performance, the expediency of its use at the preparatory stage before exercise therapy, especially in patients with DST who have initially low tolerance to physical activity. Collagen-stimulating therapy, reflecting the current understanding of the pathogenesis of DST, should be an obligatory component of therapeutic programs.

To stabilize the synthesis of collagen and other components of the connective tissue, stimulate metabolic and correction of bioenergetic processes, medications can be used in the following recommendations.

Magnerot 2 tablets 3 times a day for 1 week, then - 2-3 tablets a day for up to 4 months;

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Connective tissue dysplasia is a disease that affects the musculoskeletal system and internal organs. It occurs with the same frequency in adults and children. The clinical manifestations of this pathology are accompanied by symptoms characteristic of a number of other common diseases, which, when making a diagnosis, misleads even experienced specialists.

The treatment of connective tissue dysplasia should be started as soon as possible after the pathology is detected. This is the only way to avoid disability and live a full life, which turns out to be impossible for every tenth patient with an advanced form of this disease.

What provokes pathology

When faced with this diagnosis for the first time, most patients do not understand what is at stake. In fact, connective tissue dysplasia is a disease that manifests itself with multiple symptoms and is provoked by a number of reasons. In the predominant number of cases, the disease is transmitted genetically from relatives in a straight ascending line, arising from disruptions in the natural processes of collagen synthesis. With dysplasia, almost all organs and the musculoskeletal system are affected.

Disturbances in the development of structural elements of connective tissue inevitably lead to numerous changes. At first, the symptoms appear on the part of the articular-muscular apparatus - the elements of connective tissue are most widely represented there. As you know, the structure of this material contains fibers, cells, and its density depends on their ratio. Throughout the body, connective tissue is loose, hard and elastic. In the formation of skin, bones, cartilage, vascular walls, the main role belongs to collagen fibers, which prevail in the connective tissue and maintain its shape. The importance of elastin cannot be neglected - this substance provides muscle contraction and relaxation.

Connective tissue dysplasia develops due to mutations in genes that are responsible for natural synthesis processes. Modifications can be very diverse, affecting any link in the DNA chain. As a result, the structure of connective tissue, consisting mainly of elastin and collagen, is formed incorrectly, and structures formed with impairments cannot withstand even average mechanical stress, stretch and weaken.

Differentiated varieties of the disease

Pathologies affecting connective tissue and bones are conventionally divided into differentiated and undifferentiated forms of dysplasia. In the first case, an ailment is meant that has characteristic symptoms and is manifested by well-studied genetic or biochemical defects. Diseases of this kind have been designated by physicians by the general term “collagenopathy”. This category includes the following pathological conditions:

• Marfan syndrome. Patients with this disease are usually tall, have long arms and legs, and a curved spine. Violations can also occur with the organs of vision, up to retinal detachment and subluxation of the lens. In children, connective tissue dysplasia provokes the development of heart failure against the background of mitral valve prolapse.
• Flaccid skin syndrome. This ailment is less common than the previous one. Its specificity lies in the excessive stretching of the epidermis. In this type of collagenopathy, it is the elastin fibers that are affected. Pathology is usually hereditary.
• Eulers syndrome - Danlos. A complex genetic disease manifested by severe joint laxity. Such dysplasia of connective tissue in adults leads to increased skin vulnerability and the formation of atrophic scars.
• Osteogenesis imperfecta. This is a whole complex of genetically determined pathologies that develop due to impaired bone formation. Due to the struck dysplasia, its density sharply decreases, which inevitably leads to fractures of the limbs, spine and joints, and in childhood - to slow growth, curvature of posture, characteristic disabling deformities. Often, with damage to bone tissue, the patient has problems in the work of the central nervous system, cardiovascular, excretory and respiratory systems.

Undifferentiated form

To diagnose this type of dysplasia, it is enough that none of the patient's symptoms and complaints refer to differentiated collagenopathies. In children, this type of connective tissue dysplasia occurs in 80% of cases. In the risk group for the disease, in addition to babies, there are young people under the age of 35 years.

What changes occur in the body

Dysplasia of connective tissue can be suspected for a number of signs. Patients with such a diagnosis notice increased joint mobility and elasticity of the skin - this is the main symptom of the disease, which is characteristic of any form of collagenopathy and an undifferentiated form of the disease. In addition to these manifestations, the clinical picture can be supplemented by other disorders of the connective tissue:

• skeletal deformities;
• malocclusion;
• flat feet;
• vascular network.

More rare symptoms include anomalies in the structure of the auricles, brittle teeth, and the formation of hernias. With a severe course of the disease, changes develop in the tissues of the internal organs. Dysplasia of the connective tissue of the heart, respiratory system and abdominal cavity in most cases is preceded by the development of vegetative dystonia. Most often, dysfunction of the nervous autonomic system is observed at an early age.

Signs of connective tissue dysplasia acquire severity gradually. At birth, children may have no phenotypic characteristics at all. However, this applies mainly to undifferentiated connective tissue dysplasia. With age, the disease becomes more active, and the rate of its progression depends largely on the ecological situation in the region of residence, the quality of nutrition, chronic ailments, stress, and the degree of immune defense.

Symptoms

Dysplastic changes occurring in the connective tissues of the body have practically no obvious external signs. In many ways, the clinical manifestations are similar to the symptoms of various diseases encountered in pediatrics, gastroenterology, orthopedics, ophthalmology, rheumatology, pulmonology. Visually, a person with dysplasia may seem completely healthy, but at the same time, his appearance differs in a number of specific features. Conventionally, people with such a disease can be divided into two types: the first is tall, stooped, thin with protruding shoulder blades and collarbones, and the second is weak, fragile, vertically challenged.

Among the complaints that patients describe to the doctor, it is worth noting:

• general weakness and malaise;
• abdominal and headaches;
• bloating, constipation, diarrhea;
• increased blood pressure;
• frequent relapses of chronic respiratory diseases;
• muscle hypotonia;
• decreased appetite and weight loss;
• shortness of breath at the slightest physical exertion.

Other symptoms also indicate connective tissue dysplasia. Adult patients have a predominantly asthenic physique, with prominent pathologies of the spine (scoliosis, kyphosis, lordosis), deformities of the chest or lower extremities (valgus foot). Often in people with dysplasia, a disproportionate size of the foot or hand in relation to height is noticeable. Joint hypermobility is also a sign of abnormally formed connective tissue. Children with dysplasia often demonstrate their "talents" to their peers: they bend their fingers 90 °, unbend the elbow or knee joint, painlessly pull the skin on the forehead, the back of the hand and in other places.

Possible complications

The disease negatively affects the work of the whole body and the well-being of a person. In children with dysplasia, the growth of the upper and lower jaws often slows down, disturbances in the functioning of the organs of vision occur (myopia, retinal angiopathy develops). On the part of the vascular system, complications are also possible in the form of varicose veins, increased fragility and permeability of the vessel walls.

Diagnostic procedures

Experienced specialists are able to recognize connective tissue dysplasia syndrome after the first examination of the patient. However, to formulate an official diagnosis, the specialist will refer the patient to undergo a series of studies. Then, guided by the conclusions of experts and the results of the necessary tests, the doctor will be able to put an end to the definition of the disease and prescribe treatment.

The various symptoms of connective tissue dysplasia interfere with establishing the correct diagnosis. In addition to laboratory tests, the patient will have to undergo:

• electromyography;
• radiography.

Diagnosis of undifferentiated dysplasia can take a long time, as it requires a painstaking attitude and an integrated approach. First of all, the patient is prescribed a genetic examination for mutations of specific genes. Often, doctors resort to the use of clinical and genealogical research (diagnostics of the patient's family members, taking anamnesis). In addition, the patient is usually recommended to undergo an examination of all internal organs in order to determine the extent of the disease. The patient must measure the length of the body, individual segments and limbs, assess the mobility of the joints, the extensibility of the skin.

Nuances of therapy

Treatment of connective tissue dysplasia in adults and children is based on a single principle. Modern science uses many ways to combat the progression of dysplasia syndrome, but in most cases they all boil down to drug neutralization of symptoms or their elimination through surgery. Undifferentiated connective tissue dysplasia is practically not amenable to treatment due to multisymptomatic manifestations and the lack of clear criteria for diagnosis.

The drug course includes preparations containing magnesium - it is this trace element that plays an important role in the process of collagen synthesis. In addition to vitamin and mineral complexes, the patient is prescribed drugs that correct the work of internal organs (cardiotrophic, antiarrhythmic, vegetotropic, nootropic, beta-blockers).

Of no small importance in the treatment of such a disease as collagenopathy belongs to strengthening, maintaining the tone of muscle and bone tissues, and preventing the development of irreversible complications. Thanks to comprehensive treatment, the patient has every chance to restore the functionality of internal organs and improve the quality of life.

In children, the treatment of connective tissue dysplasia is carried out, as a rule, in a conservative way. By regularly taking vitamins of group B and C, it is possible to stimulate collagen synthesis, which allows regression of the disease. Doctors recommend that babies suffering from this pathology take a course of magnesium and copper-containing drugs, drugs that stabilize metabolism, increase the level of essential amino acids.

Surgical treatment and rehabilitation

As for the surgical operation, they decide to switch to this radical method of treatment with pronounced symptoms of dysplasia, which threatens the patient's life: prolapse of second and third degree heart valves, chest deformity, intervertebral hernias.

For the recovery of patients suffering from connective tissue dysplasia, it is recommended to undergo a course of therapeutic massage of the back, the zone of the cervicobrachial region and extremities.

When diagnosed with planovalgus installation in a child, provoked by connective tissue dysplasia, you should consult an orthopedist. The doctor will prescribe the wearing of instep supports, daily gymnastics for the feet, baths with sea salt and massage of the limbs.

If a child complains of joint pain, it is necessary to choose shoes with the correct orthopedic soles. For babies, the shoes should tightly fix the position of the heel, toe and ankle joint. In all orthopedic models, the heel is made high and elastic, and the heel is no more than 1-1.5 cm.

With dysplasia of connective tissue, it is fundamentally important to observe the daily regimen: adults should allocate at least 7-8 hours for a night's sleep, and 10-12 hours of sound sleep are shown to children. At an early age, babies should rest during the day.

In the morning, it is advisable not to forget about elementary exercise - its benefits can hardly be overestimated in such a disease. If there are no restrictions on playing sports, they should be practiced all their life. However, professional training is contraindicated for children and adults and dysplasia. With hypermobility of the joints, degenerative-dystrophic changes in cartilage tissue, ligaments develop rapidly due to frequent trauma, microscopic hemorrhages. All this can lead to recurrent aseptic inflammation and the start of degenerative processes.

Swimming, skiing, cycling, badminton have an excellent effect. Calm, dosed walking is helpful when walking. Daily physical education and non-professional sports increase the compensatory and adaptive capabilities of the body.

There are such internal disorders that lead to a whole bunch of diseases in different areas - from joint diseases to intestinal problems, and connective tissue dysplasia is a prime example of them. Not every doctor is able to diagnose it, since in each case it is expressed by its own set of symptoms, so a person can unsuccessfully heal himself for years without suspecting what is happening inside him. Is this diagnosis dangerous and what measures should be taken?

What is connective tissue dysplasia

V general sense the Greek word "dysplasia" means a malformation or developmental disorder that can be applied to both tissues and internal organs in general. This problem always congenital, since it appears in the prenatal period. If connective tissue dysplasia is mentioned, it means a genetically heterogeneous disease characterized by a disruption in the development of connective tissue. The problem is polymorphic in nature, mainly occurs at a young age.

In official medicine, the pathology of the development of connective tissue can also be found under the names:

• hereditary collagenopathy;
• hypermobile syndrome.

Symptoms

The number of signs of connective tissue disorders is so great that one by one the patient can associate them with any diseases: pathology affects most of the internal systems - from the nervous to the cardiovascular and even expressed in the form of an unreasonable decrease in body weight. Often, this type of dysplasia is detected only after external changes, or diagnostic measures taken by the doctor for another purpose.

Among the brightest and most frequently detected signs of connective tissue disorders are:

• Autonomic dysfunction, which can manifest itself in the form of panic attacks, tachycardia, fainting, depression, nervous exhaustion.
• Heart valve problems, including prolapse, heart abnormalities, heart failure, myocardial abnormalities.
• Asthenization - the inability of the patient to subject himself to constant physical and mental stress, frequent psycho-emotional breakdowns.
• X-shaped deformity of the legs.
• Varicose veins, spider veins.
• Joint hypermobility.
• Hyperventilation syndrome.
• Frequent bloating due to digestive disorders, pancreatic dysfunction, problems with bile production.
• Soreness when trying to pull skin back.
• Problems with the immune system, vision.
• Mesenchymal dystrophy.
• Anomalies in the development of the jaw (including bite).
• Flat feet, frequent joint dislocations.

Doctors are sure that people who have connective tissue dysplasia have psychological disorders in 80% of cases. Light form- This is depression, a constant feeling of anxiety, low self-esteem, lack of ambition, dissatisfaction with the current state of affairs, supported by a reluctance to change anything. However, even autism can coexist with the diagnosis of connective tissue dysplasia.

In children

At birth, a child may be deprived of phenotypic signs of connective tissue pathology, even if it is collagenopathy, which has vivid clinical manifestations. In the postnatal period, defects in the development of connective tissue are also not excluded, therefore, such a diagnosis is rarely made to a newborn. The situation is complicated by the natural condition of the connective tissue for children under 5 years old, due to which their skin stretches too much, the ligaments are easily injured, and hypermobility of the joints is observed.

In children over 5 years of age, with suspicion of dysplasia, you can see:

• changes in the spine (kyphosis / scoliosis);
• chest deformities;
• poor muscle tone;
• asymmetric shoulder blades;
• malocclusion;
• fragility of bone tissue;
• increased flexibility of the lumbar spine.

Causes

The basis of changes in connective tissue is genetic mutations, therefore, its dysplasia can not be recognized in all forms as a disease: some of its manifestations do not worsen the quality of human life. Dysplastic syndrome causes changes in genes that are responsible for the main protein that forms connective tissue - collagen (less often - fibrillin). If a failure occurs during the formation of its fibers, they will not be able to withstand the load. Additionally, magnesium deficiency is not excluded as a factor in the appearance of such dysplasia.

Classification

Doctors today have not come to a consensus regarding the classification of connective tissue dysplasia: it can be divided into groups about the processes that occur with collagen, but this approach allows you to work only with hereditary dysplasia. The following classification is considered more universal:

• Differentiated connective tissue disorder, which has an alternative name - collagenopathy. Dysplasia is hereditary, the signs are clear, the diagnosis of labor disease is not.
• Undifferentiated connective tissue disorder - this group includes the remaining cases that cannot be attributed to differentiated dysplasia. The frequency of its diagnosis is several times higher, and in people of all ages. A person who has been diagnosed with undifferentiated connective tissue pathology often does not need treatment, but must be under the supervision of a doctor.

Diagnostics

A lot of controversial issues are associated with dysplasia of this kind, since specialists practice several scientific approaches in the issue of diagnostics. The only point that is beyond doubt is the need for clinical and genealogical studies, since connective tissue defects are congenital. In addition, to clarify the picture, the doctor will need:

• systematize the patient's complaints;
• measure the body by segments (for connective tissue dysplasia, their length is relevant);
• assess joint mobility;
• let the patient try to wrap their thumb and little finger around their wrist;
• conduct an echocardiogram.

Analyzes

Laboratory diagnosis of this type of dysplasia consists in the study of urine analysis for the level of hydroxyproline and glycosaminoglycans - substances that appear in the process of collagen breakdown. Additionally, it makes sense to check blood for frequent mutations in PLOD and general biochemistry (detailed analysis from a vein), metabolic processes in connective tissue, markers of hormonal and mineral metabolism.

Which doctor treats connective tissue dysplasia

In children, the pediatrician is involved in the diagnosis and development of therapy (entry-level), since there is no doctor who works exclusively with dysplasia. After that, the scheme is the same for people of all ages: if there are several manifestations of connective tissue pathology, you will need to take a treatment plan from a cardiologist, gastroenterologist, psychotherapist, etc.

Treatment of connective tissue dysplasia

There are no ways to get rid of this diagnosis, since this type of dysplasia affects changes in genes, however, complex measures can alleviate the patient's condition if he suffers from clinical manifestations of connective tissue pathology. The predominantly practiced scheme for the prevention of exacerbation, which consists in:

• well-chosen physical activity;
• individual diet;
• physiotherapy;
• drug treatment;
• psychiatric care.

It is recommended to resort to surgical intervention for this type of dysplasia only in case of deformation of the chest, serious disorders of the spine (especially of the sacral, lumbar and cervical regions). The syndrome of connective tissue dysplasia in children requires additional normalization of the daily routine, selection of constant physical activity - swimming, cycling, skiing. However, a child with such dysplasia should not be sent to professional sports.

Without the use of drugs

Doctors advise starting treatment with the exclusion of high physical exertion, hard work, including mental work. The patient annually needs to undergo a course of exercise therapy, if possible, having received a lesson plan from a specialist and performing the same actions on his own at home. Additionally, you will need to visit the hospital for a complex of physiotherapy procedures: ultraviolet irradiation, rubdowns, electrophoresis. The appointment of a corset that supports the neck is not excluded. Depending on the psycho-emotional state, a visit to a psychotherapist may be prescribed.

For children with this type of dysplasia, the doctor prescribes:

• Massage of the limbs and back with an emphasis on the cervical region. The procedure takes place every six months, 15 sessions each.
• Wearing an instep support if a hallux valgus is diagnosed.

Diet

Experts recommend focusing on the nutrition of a patient who has been diagnosed with connective tissue pathology on protein food, but this does not imply a complete exclusion of carbohydrates. The daily menu for dysplasia must necessarily consist of low-fat fish, seafood, legumes, cottage cheese and hard cheese, supplemented with vegetables, unsweetened fruits. Nuts should be used in small quantities in the daily diet. If necessary, a vitamin complex can be prescribed, especially for children.

Taking medications

Drinking medications should be under the supervision of a doctor, since there is no universal pill for dysplasia and it is impossible to predict the reaction of a particular organism even to the safest medication. Therapy to improve the condition of connective tissue with its dysplasia may include:

• Substances that stimulate the natural production of collagen - ascorbic acid, B-group vitamins and sources of magnesium (Magnerot).
• Medicines that normalize the level of free amino acids in the blood - Glutamic acid, Glycine.
• Means that help mineral metabolism - Alfacalcidol, Osteogenon.
• Preparations for the catabolism of glycosaminoglycans, mainly for chondroitin sulfate - Rumalon, Chondroxide.

Surgical intervention

Due to the fact that this pathology of the connective tissue is not considered a disease, the doctor will recommend an operation if the patient suffers from deformation of the musculoskeletal system, or dysplasia can be fatal due to vascular problems. In children, surgical intervention is practiced less often than in adults; doctors try to do with manual therapy.

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Attention! The information presented in the article is for informational purposes only. The materials of the article do not call for self-treatment. Only a qualified doctor can diagnose and give recommendations for treatment based on the individual characteristics of a particular patient.

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