How is connective tissue weakness diagnosed? Connective tissue dysplasia diagnostics
Connective tissue dysplasia, or DST, is a genetically determined (caused by genetics) condition of 35% of the total population of the Earth - such data is provided by Professor Alexander Vasiliev, head of the laboratory of the Hematology Research Center under the Ministry of Health of the Russian Federation. Officially, DST is usually called a systemic connective tissue disease, although the term “condition”, due to the prevalence of the phenomenon, is used by many scientists and doctors. Some foreign sources call the proportion of dysplastics (those suffering from dysplasia to varying degrees) - 50% of all people. This discrepancy - from 35% to 50% - is associated with differing international and national approaches to classifying a person into a disease group.
Connective tissue dysplasia
The presence of many approaches to defining the disease indicates that the issue has not been fully studied. They began to study it seriously quite recently, when interdisciplinary medical institutes appeared and an integrated approach to diagnostics began to develop. But even now, in a regular hospital, a diagnosis of connective tissue dysplasia is not always made due to its multifaceted nature and the complexity of the clinical picture.
Connective tissue dysplasia: pathology, its types and clinical manifestations
DST is characterized by genetic disorders in the development of connective tissue - mutational defects in collagen and elastin fibers and the ground substance. As a result of mutations in fibers, their chains are formed either short relative to the norm (deletion), or long (insertion), or they are affected by a point mutation as a result of the inclusion of the wrong amino acid, etc. The quantity/quality and interaction of mutations affect the degree of manifestation of DST, which usually increases from ancestors to descendants.
Such a complex “technology” of the disease makes each patient with DST unique, however, there are also stable mutations that lead to rare types of manifestations of dysplasia. That's why they highlight two types of DST - differentiated and undifferentiated.
Differentiated connective tissue dysplasia, or DDCT , is characterized by a certain type of inheritance of characteristics and a clear clinical picture. It includes Alport syndrome, Marfan, Sjögren, Ehlers-Danlos syndromes, joint hypermobility, epidermolysis bullosa, “crystal man disease” - osteogenesis imperfecta - and others. DDST is rare and is diagnosed fairly quickly.
Undifferentiated connective tissue dysplasia, or UCTD , manifests itself in a very diverse manner, the lesions are multi-organ in nature: several organs and systems are affected. The clinical picture of UCTD may include separate small and large groups of signs from the list:
- Skeleton: asthenic build; disproportionate lengthening of limbs and fingers; various vertebral deformities and funnel-shaped/keeled deformities of the chest, various types of flat feet, clubfoot, cavus foot; X/O-shaped limbs.
- Joints: hypermobility, hip dysplasia, increased risk of dislocations and subluxations.
- Muscular system: lack of mass, especially oculomotor and cardiac.
- Skin: the integument is thinned, hyperelastic, and is highly traumatic with the formation of scars with a “tissue paper” pattern and keloid scars.
- Cardiovascular system: altered anatomy of the heart valves; thoracodiaphragmatic syndrome caused by vertebral pathologies and pathologies of the chest (thoracodiaphragmatic heart); damage to arteries and veins, including varicose veins at a young age; arrhythmic syndrome, etc.
- Bronchi and lungs: bronchiectasis, spontaneous pneumothorax, ventilation disorders, tracheobronchial dyskinesia, tracheobronchomalacia, etc.
- Gastrointestinal tract: disruption (compression) of the blood flow supplying the abdominal organs with blood - dysplastic disease is treated unsuccessfully for a long time, sometimes for a lifetime, by a gastroenterologist, while the cause of the symptoms is connective tissue dysplasia.
- Vision: varying degrees of myopia, elongation of the eyeball, lens dislocation, blue sclera syndrome, strabismus, astigmatism, flat cornea, retinal detachment.
- Kidneys: renovascular changes, nephroptosis.
- Teeth: caries in early childhood, generalized periodontal disease.
- Face: malocclusions, pronounced facial asymmetries, gothic palate, low-growing hair on the forehead and neck, large ears or “crumpled” ears, etc.
- Immune system: allergic, autoimmune syndromes, immunodeficiency syndrome.
- Mental sphere: increased anxiety, depression, hypochondria, neurotic disorders.
This is not a complete list of consequences, but it is typical: this is how connective tissue dysplasia manifests itself in children and adults. The list gives an idea of the complexity of the problem and the need for scrupulous research to make the correct diagnosis.
Hip dysplasia
Hip dysplasia- deviation, disturbance or pathology in the development of articular structures in the pre- and postnatal periods, the result of which is an incorrect spatial-dimensional configuration of the joint (the relationship and position of the acetabulum and the femoral head). The causes of the disease are varied, and may also be due to genetic factors, such as connective tissue dysplasia.
In medicine, it is customary to distinguish three forms of development of DTS - preluxation (or the stage of an immature joint), subluxation (the stage of initial morphological changes in the joint) and dislocation (pronounced morphological changes in the structure).
The joint at the pre-luxation stage has a stretched, weak capsule, and the femoral head dislocates freely and returns to its place (slipping syndrome). Such a joint is considered immature - formed correctly, but not secured. The prognosis for children with this diagnosis is most positive if the defect is noticed in time, and therapeutic intervention begins on time and is carried out effectively.
A joint with subluxation has a displaced femoral head: its displacement in relation to the acetabulum can occur to the side or upward. In this case, the general position of the cavity and the head is preserved, the latter does not violate the limits of the limbus - the cartilaginous plate of the cavity. Competent and timely therapy implies a high probability of the formation of a healthy, full-fledged joint.
The joint in the dislocation stage is, in all respects, a displaced femoral head, the contact between it and the socket is completely lost. This pathology can be either congenital or the result of improper/ineffective treatment of earlier stages of dysplasia.
External signs for making a preliminary diagnosis of DTS in infants:
- quantitative limitation in hip abduction;
- shortened thigh - with the same position of the legs, bent at the knees and hip joints, the knee on the affected side is located lower;
- asymmetry of the buttock, under the knees and inguinal folds on the child’s legs;
- Marx-Ortolani symptom (also called the clicking or sliding symptom).
If an external examination gives positive results for diagnosing DTS, then an accurate diagnosis is made based on the results of ultrasound and x-ray examination (after 3 months).
Confirmed dysplasia of the hip joints is treated, depending on the general form and secondary features, with the help of Pavlik stirrups, plaster garters, other functional devices and physiotherapy, in case of severe pathologies - with surgical methods.
Connective tissue dysplasia in children
Connective tissue dysplasia in children can “declare” itself at any age of the child. Often, clinical signs become more distinct as they grow older (“the effect of developing a negative photograph”), and therefore an accurate definition of the disease in childhood and adolescence is difficult: such children are simply more likely than others to end up with problems from one specialist, then to another.
If a child is diagnosed with connective tissue dysplasia, and it is authoritatively confirmed, then do not despair - there are many methods of supportive, corrective and restorative therapy. In 2009, for the first time in Russia, a basic drug program for the rehabilitation of patients with CTD was defined.
In addition, dysplastic patients have their own proven advantages over relatively healthy people. As Professor Alexander Vasilyev says, most people with dysplasia have a higher (relative to average) level of intelligence - many successful people suffered from DST. Very often, patients with dysplasia look more attractive than the “main population” due to their elongated limbs and general sophistication of appearance. In 90% of cases, they are outwardly younger than their biological age. There is another important advantage of dysplastics, confirmed by domestic and foreign observations: patients with DST are on average 2 times less likely to be exposed to cancer.
When should parents be vigilant and begin a comprehensive examination of their child in reputable clinics? If you notice at least 3–5 of the above list of pathologies and conditions in your child, you should contact a specialist. There is no need to draw conclusions on your own: even the presence of several matches does not mean a diagnosis of DST. Doctors must establish that they are all a consequence of one cause and are interconnected by connective tissue pathology.
Connective tissue is the basis of the entire organism. If its structure is disrupted, pathological changes occur in all organs. Therefore, connective tissue dysplasia in children is complex and can masquerade as any other pathology. This makes diagnosis much more difficult.
The essence of pathology
Connective tissue dysplasia in children is not an independent pathology - it is a complex of congenital disorders that arise in the prenatal period. Connective tissue is found in almost all organs of the human body. It is of greatest importance in building the skeleton and ensuring motor function. Connective tissue consists mainly of collagen protein.
Dysplasia occurs when a genetic failure occurs during the formation of collagen fibers. As a result, the connective tissue loses its elasticity and extensibility.
Interesting!
The incidence of dysplasia varies between 6-9% among all newborns.
According to ICD 10, the disease is designated M35.7.
Causes
CTD in a child is a multifactorial disease. This means that for it to occur, the body must be affected by several causes simultaneously. The main predisposing factors include:
- Bad habits of the mother during pregnancy;
- Poor nutrition;
- Unfavorable environmental conditions;
- Severe gestosis in a pregnant woman;
- Constant stress and physical activity;
- Some infectious diseases of women during pregnancy.
The hereditary factor is of great importance.
Manifestations
Symptoms of connective tissue dysplasia in children are very numerous, since this tissue is present in all organs.
Nervous system:
- Vegetative-vascular dystonia;
- Problems with speech development;
- Headache;
- Increased sweating;
- Urinary incontinence.
The cardiovascular system:
- Congenital heart defects;
- Aortic aneurysm;
- Vascular underdevelopment;
- Lability of blood pressure;
- Heart failure.
Respiratory system:
- Constant shortness of breath;
- Bronchiectasis;
- Pleurisy;
- Underdevelopment of the lungs.
Musculoskeletal system:
- Rachiocampsis;
- Flat feet;
- Chest deformity;
- Congenital and habitual dislocations;
- Increased joint flexibility;
- Frequent fractures.
Genitourinary system:
- Kidney prolapse;
- Anomalies of the renal collecting system;
- Underdevelopment of the ureters;
- Urinary incontinence;
- Disturbances in the development of the gonads;
- Violation of the development of the uterus and ovaries.
Digestive tract:
- Bowel dysfunction;
- Underdevelopment of the intestines and esophagus.
Sense organs:
- Strabismus;
- Myopia;
- Lens subluxation;
- Astigmatism;
- Hearing loss.
External manifestations:
- High growth;
- Long thin limbs;
- Thinness;
- Dry and pale skin;
- Large asymmetrical ears;
- Stretch marks on the skin.
Muscle dysplasia in children leads to the development of myasthenia gravis, a muscle weakness in which the child loses the ability to move.
Symptoms can occur separately, from only one group, or from several groups at the same time. Depending on this, there are two types of connective tissue dysplasia:
- Differentiated. Damage to any one group of organs occurs. Such diseases include Marfan syndrome, scleroderma, cystic fibrosis;
- Undifferentiated. Signs of dysplasia cannot be attributed to any one group.
Dysplasia of the musculoskeletal system in children is the most severe. This form of the disease leads to impaired motor function and changes in the functioning of internal organs.
Hip dysplasia is manifested by the shortening of one of the baby’s legs and asymmetry of the buttock folds. The child cannot spread his bent legs to the sides. Children begin to walk late; their gait resembles that of a duck. The child gets tired quickly when walking, which can cause pain.
With knee dysplasia, a deformity of the kneecap develops. The child complains of pain when walking and fatigue. Dislocations and subluxations of the joint often occur. When the ankle joint is affected, clubfoot and flat feet develop. The child often twists his legs when walking.
Diagnostics
The process of diagnosing dysplasia in children is quite complex. Various methods are used to make a diagnosis:
- CT and MRI;
- Electromyography;
- Radiography.
These techniques allow you to assess the degree of changes in connective tissue. To confirm the diagnosis, genetic studies are carried out to identify abnormalities in collagen formation.
Treatment
An integrated approach is used to treat connective tissue dysplasia in children. Even modern medicine cannot restore genetic disorders, so all treatment is symptomatic.
Diet
Proper nutrition is of great importance in the treatment of connective tissue dysplasia. The purpose of the diet is to stimulate the production of your own collagen and replenish the body’s need for vitamins and minerals. Essentially, this meets the principles of healthy eating. The diet should include:
- Proteins – meat and fish;
- Carbohydrates – cereals, bread, pasta;
- Vitamins – fruits, vegetables, herbs;
- Minerals – eggs, dairy products.
Medicines
Drug therapy is aimed at eliminating the symptoms of the disease and stimulating the synthesis of normal collagen. Magnesium deficiency is known to reduce collagen production in children. Therefore, children with connective tissue dysplasia must be prescribed magnesium and calcium preparations - Magnerot, Kalcemin.
To replenish the components of cartilage tissue, preparations containing glucosamine and chondroitin are indicated. These include Arthra, Teraflex, Cartiflex.
Ascorbic acid and vitamins A and E also contribute to the stimulation of your own collagen.
Exercise therapy
Gymnastics is a mandatory step in the treatment of dysplasia in children. Intense physical activity should be limited, as the child has an increased risk of developing fractures and dislocations. A course of therapeutic exercises is drawn up by a specialist; it is adjusted as the child grows and tissues are restored.
Massage
To restore tissue elasticity and strengthen the muscular-ligamentous apparatus, regular massage of the limbs is performed. Both conventional classical massage and various non-traditional techniques are used. It is important that massage is daily.
Physiotherapy
Physiotherapy procedures are carried out taking into account the child’s age:
- Electrophoresis;
- Applications of paraffin and ozokerite;
- Magnetotherapy;
- Diadynamic currents.
The greatest effect is observed during a course of physiotherapy.
Consequences
With untimely and inadequate treatment, irreversible damage to the limbs can occur. Joint dysplasia leads to the development of contractures, severe arthritis and arthrosis. In this case, treatment can only be surgical.
Connective tissue dysplasia in children is a complex and poorly understood disease. It requires the earliest possible diagnosis and comprehensive treatment.
The human body consists of connective tissue, which performs a protective, trophic and supporting function. If there is a violation of its formation during the embryonic development of the fetus, then the child is born with connective tissue dysplasia. The diagnosis sounds scary for parents. But is it?
What's happened?
Connective tissue is produced from mesenchymal cells involved in the morphogenesis of any tissue during intrauterine development. Most of it in the human body is fibrous. That is, it consists of elastin protein and collagen fibers, which give it strength, elasticity and shape. Articular cartilage, fat, blood, iris, bones - all this is connective tissue that helps human organs and systems function properly.
Connective tissue dysplasia is a defect in the basic substance and fibrous structures of tissue, causing a disorder of homeostasis at all levels of the body's vital functions. A peculiar mutation of the genes responsible for the synthesis of fibers leads to the inability of connective tissue to withstand full mechanical load.
Deviations in tissue development can be of two types:
- insertion (fabric fibers are too long and stretchy);
- deletion (fibers are very short, with increased elasticity).
Scientists believe that the deletion is not dangerous to human life. There are no significant deviations in the functioning of organs and systems in this condition. Insertion entails a number of pathologies, which doctors collectively call “connective tissue dysplasia syndrome.” The disease often manifests itself as changes in organs (especially the heart) and the musculoskeletal system. Dysplasia of the connective tissue of the heart is dangerous because it does not make itself felt immediately, causing persistent disturbances in the functioning of the myocardium. Changes in bones, cartilage and tendons are visible almost immediately after the birth of the baby.
The disease is divided into two groups: differentiated and undifferentiated connective tissue dysplasia. In the first case, specialists manage to find a gene defect that leads to the formation of clinical symptoms. But with UCTD, it is impossible to establish the cause of disturbances in the genome. There are no data on such diseases in the ICD 10 classifier.
Reasons for the development of disorders
Scientists believe that the main cause of connective tissue dysplasia in children is gene mutation during embryogenesis. Most often, the genes responsible for the production of fibrillar protein, enzymes, and carbohydrate-protein complexes are affected. The following factors can provoke a “breakdown”:
- unhealthy diet (high content of dyes in food, consumption of fast foods);
- toxic effects of drugs and carcinogens;
- occupational hazards;
- viral infections;
- bad ecology.
Congenital is the consequences of a burdened heredity of parents. If pathology is registered in both partners, then the risk of gene “breakage” increases to 80%.
Syndrome of connective tissue dysplasia of the heart is formed for the same reasons, but appears more often in adolescence. This is due to hormonal changes in the body, when the level of testosterone and progesterone in the blood increases. Sometimes such a disorder is provoked by thyroid disease or a deficiency of magnesium salts.
The causes of undifferentiated connective tissue dysplasia are as follows:
- hereditary predisposition;
- high levels of hormones at 32-40 weeks of pregnancy;
- exposure to radiation or other exposures;
- the presence of STIs during pregnancy, especially viral ones.
In most cases, there is a multifactorial formation of the disease.
Diagnostics
Diagnosis of connective tissue dysplasia is complicated by a large number of clinical symptoms that do not allow the pathology to be accurately and quickly identified. A comprehensive examination of patients includes: 
- laboratory blood tests (BAC, CBC, tumor markers);
- urine analysis (glycosaminoglycans and hydroxyproline);
- assessment of joint mobility according to the Beighton scale;
- "wrist test";
- x-ray of organs and tissues;
- FGDS;
- biopsy with histological examination of the material.
If there is a suspicion of the presence of connective tissue dysplasia syndrome of the heart, then electrophysiological examination methods are performed - EEG and ECG.
Severe connective tissue dysplasia in children can sometimes be noticed with the naked eye without any examination, but it is necessary to contact a specialist. Only a doctor makes a diagnosis and prescribes individual treatment taking into account the patient’s health characteristics.
Symptoms
In a pathological condition, the localization of the disorder plays an important role in the formation of clinical signs. Doctors note the following general symptoms of the disease:
- sleep problems;
- fast fatiguability;
- heart pain;
- cephalgia;
- dizziness or fainting.
From the musculoskeletal system, flat feet, elongation of the limbs, scoliosis or chest deformation, and joint hypermobility properties are recorded. Patients may bend their fingers 90 degrees or twist their arms behind their back.
With cardiac dysplasia, constitutional signs of organ underdevelopment are observed: a “drip” or “hanging” heart, a turn around the longitudinal and sagittal axis. An ultrasound examination of the heart reveals problems with the chords, valves, and septa between the ventricles. The following structural features of the heart and its structural parts are diagnosed:
- prolapse of the mitral valve leaflets;
- abnormal number of leaflets in the valves;
- expansion of the proximal aorta and pulmonary trunk;
- presence of aneurysms;
- functional disorders of the conduction system.
The syndrome of pathology of the organs of vision includes the development of ophthalmological diseases. Astigmatism, myopia, retinal detachment or angiopathy, blue sclera - all this can be a sign of improper formation of connective tissue. Patients may complain of constant attacks of spots before the eyes or causeless pain and stinging.
Hereditary connective tissue dysplasia provokes the occurrence of early varicose veins of the extremities. Patients' blood vessels become fragile and permeable, which increases the risk of internal bleeding. Nosebleeds occur very often. The epidermal layer of the skin is thinned and greatly altered: spider veins, hemangiomas or teleectasia appear, and excessive elasticity is determined.
The disease is diverse in its manifestations, so doctors also identify other syndromes of the pathological condition:
- bronchopulmonary;
- vertebrogenic;
- visceral;
- cosmetic and others.
Dysplasia can provoke mental disorders, for example, hypochondria, neurosis or depression. Patients have an underestimated assessment of their own capabilities, are emotionally unstable, anxious, and vulnerable. They experience attacks of self-flagellation, suicidal thoughts, and decreased interest in life.
Treatment
The manifestations of the disease are so individual that there is no universal treatment regimen. The goals of treatment are as follows: increase the level of collagen formation, eliminate life-threatening symptoms of the disease, and normalize the patient’s mental state. 
Conservative treatment is carried out in courses lasting from 3 to 8 weeks. Depending on the severity of the disease and the presence of concomitant pathologies, courses are prescribed 1-3 times a year. The following drugs are used to stimulate collagen production:
- Ascorbic acid;
- Copper sulfate 1%;
- synthetic B vitamins.
Magnesium preparations for connective tissue dysplasia are the basis of therapy. Thanks to this element, the structure of transport RNA is stabilized, the overall rate of protein synthesis increases, oxygen is preserved in cells, and the excitability of neurons decreases.
In order for glycosaminoglycans to decompose, doctors recommend taking a course of Rumalon, Chondroxide or Chondrotin sulfate. To stabilize mineral metabolism, Alfacalcidol is used, to increase the level of amino acids in the blood - Potassium orotate, to establish bioenergy metabolism - Mildranate or Riboxin. All of the above medications should be taken only as prescribed by a doctor under the monitoring of vital blood parameters.
Physiotherapy for dysplasia
Courses of physiotherapeutic procedures are prescribed by a physiotherapist, taking into account all the features of the pathological condition. For severe disorders of the musculoskeletal system, laser, magneto, inductotherapy, and medicinal electrophoresis with Dimexide are recommended. To increase vascular tone, pine, hydrogen sulfide, carbon dioxide and radon baths are used, as well as a sauna and contrast shower. In case of vegetative-vascular syndrome, it is advisable to prescribe a 1% solution of caffeine sodium benzoate, mezatone or ephedrine using the collar method or Shcherbak’s method.
Therapeutic exercise for connective tissue dysplasia
Regular physical exercise or a complex of exercise therapy is indicated for all patients with dysplasia. Exercises are performed daily for 20-40 minutes. We recommend loads in a non-contact static-dynamic mode, which are performed in the “lying on your back” position. To activate the cardiovascular system, it is useful to engage in aerobic training: jogging, race walking, skiing, breathing exercises, cycling. You can use exercise bikes at home. 
Patients should not perform spinal traction, hanging, lifting barbells and weights, or isometric exercises. It is also necessary to abandon all types of contact sports, weightlifting, and professional dancing.
Do I need to follow a diet for connective tissue dysplasia?
Most patients with connective tissue dysplasia are diagnosed with gastrointestinal diseases. The more common ones include gastritis and stomach ulcers. Because of this, all patients are prescribed a consultation with a gastroenterologist to identify disturbances in the gastrointestinal tract and prescribe appropriate treatment.
The diet of patients with dysplasia contains the following foods:
- B vitamins - B1, B2, B3, B6 (oats, peas, kidneys, liver);
- vitamin C (sweet peppers, citrus fruits, black currants, porcini mushrooms);
- containing chondroitin sulfates (fish and meat aspic, jellied meat, meat broth);
- enriched with magnesium (bananas, seaweed, lentils, beans, beets, carrots);
- polyunsaturated fatty acids (eggs, salmon, mackerel, flax seeds).
Of great importance in diet therapy is maintaining the optimal ratio between calcium and phosphorus, as well as calcium and magnesium in the diet.
Scientists have long proven that there is an undeniable relationship between connective tissue dysplasia and pregnancy. Women planning to replenish their family need to remember that the future health of the child is laid in the process of embryogenesis. That is why during this period you should be as careful as possible about yourself and your well-being.
Connective tissue dysplasia (CTD) (dis - disorders, plasia - development, formation) is a disorder of the development of connective tissue in the embryonic and postnatal periods, a genetically determined condition characterized by defects in the fibrous structures and the main substance of the connective tissue, leading to a disorder of homeostasis in the tissue, organ and organismal levels in the form of various morphofunctional disorders of visceral and locomotor organs with a progressive course, which determines the characteristics of the associated pathology, as well as the pharmacokinetics and pharmacodynamics of drugs.
Data on the prevalence of DST itself are contradictory, which is due to different classification and diagnostic approaches. The prevalence of individual signs of CTD has gender and age differences. According to the most conservative data, the prevalence rates of CTD are at least comparable to the prevalence of major socially significant non-communicable diseases.
DST is morphologically characterized by changes in collagen, elastic fibrils, glycoproteins, proteoglycans and fibroblasts, which are based on inherited mutations of 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 for them. Some researchers, based on the magnesium deficiency detected in 46.6-72.0% of cases of DST in various substrates (hair, red blood cells, oral fluid), assume the pathogenetic significance of hypomagnesemia.
One of the fundamental characteristics of connective tissue dysplasia as a dysmorphogenetic phenomenon is that the phenotypic signs of CTD may be absent at birth or have very slight severity (even in cases of differentiated forms of CTD) and, like the image on photographic paper, appear throughout life. Over the years, the number of signs of DST and their severity increases progressively.
The classification of DST is one of the most controversial scientific issues. The lack of a unified, generally accepted classification of DST reflects the disagreement of opinions of researchers on this issue as a whole. DST can be classified based on a genetic defect in the synthesis, maturation or breakdown of collagen. This is a promising classification approach that makes it possible to substantiate the genetically differentiated diagnosis of CTD, but to date this approach is limited to hereditary CTD syndromes.
T.I. Kadurina (2000) distinguishes the MASS phenotype, marfanoid and Ehlers-like phenotypes, noting that these three phenotypes are the most common forms of non-syndromic CTD. This proposal is very tempting because of its simplicity and the underlying idea that nonsyndromic forms of CTD are “phenotypic” copies of known syndromes. Thus, the “marfanoid phenotype” is characterized by a combination of “signs of generalized connective tissue dysplasia with an asthenic physique, dolichostenomelia, arachnodactyly, damage to the valvular apparatus of the heart (and sometimes the aorta), and visual impairment.” With the “Ehlers-like phenotype,” there is a “combination of signs of generalized connective tissue dysplasia with a tendency to skin hyperextensibility and varying degrees of joint hypermobility.” The “MASS-like phenotype” is characterized by “signs of generalized connective tissue dysplasia, a number of cardiac disorders, skeletal abnormalities, and skin changes such as thinning or the presence of areas of subatrophy.” Based on this classification, it is proposed to formulate a diagnosis of DST.
Considering that the classification of any pathology has an important “applied” meaning - it is used as a basis for formulating a diagnosis, solving classification issues is very important from the point of view of clinical practice.
There are no universal pathological damage to connective tissue that would create 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 multiorgan nature of lesions in DST. In this regard, a classification approach is proposed with the separation of syndromes associated with dysplastic changes and pathological conditions.
Neurological impairment syndrome: autonomic dysfunction syndrome (vegetative-vascular dystonia, panic attacks, etc.), hemicrania.
Autonomic dysfunction syndrome develops in a significant number of patients with DST 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, a mixed form is less common, and in a small percentage of cases - vagotonia. The severity of the clinical manifestations of the syndrome increases in parallel with the severity of DST. 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, underlying the disruption of the biochemistry of metabolic processes in connective tissue and the formation of morphological substrates, leading to changes in the function of the hypothalamus, pituitary gland, gonads, and sympathetic-adrenal system.
Asthenic syndrome: decreased performance, deterioration of tolerance to physical and psycho-emotional stress, increased fatigue.
Asthenic syndrome is detected in preschool and especially clearly in school, adolescence and young adulthood, accompanying patients with DST throughout their lives. There is a dependence of the severity of clinical manifestations of asthenia on the age of the patients: the older the patients, the more subjective complaints.
Valve syndrome: isolated and combined heart valve prolapses, myxomatous valve degeneration.
More often it is represented by mitral valve prolapse (MVP) (up to 70%), less often - prolapse of the tricuspid or aortic valves, enlargement of the aortic root and pulmonary trunk; aneurysms of the sinuses of Valsalva. In some cases, the identified changes are accompanied by regurgitation phenomena, 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 influence of age on the condition of the valve apparatus. In addition, the severity of DST and the volume of the ventricles influence the severity of valvular changes.
Thoradiaphragmatic syndrome: asthenic shape 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 DST, the most common deformity of the pectus excavatum is the funnel chest deformity, the second most common is the keeled deformity, and the most rare is the asthenic form of the chest.
The formation of thoracodiaphragmatic syndrome begins at early school age, the distinctness of manifestations occurs at the age of 10-12 years, and its maximum severity occurs during 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 the morphofunctional parameters of the heart and lungs. Deformations of the sternum, ribs, spine and the associated high position of the diaphragm lead to a decrease in the thoracic cavity, an increase in intrathoracic pressure, disrupt the flow and outflow of blood, and contribute to the occurrence of cardiac arrhythmias. The presence of thoradiaphragmatic syndrome may lead to an increase in pressure in the pulmonary circulation system.
Vascular syndrome: damage to elastic arteries: idiopathic expansion of the wall with the formation of a saccular aneurysm; damage to arteries of muscular and mixed types: bifurcation-hemodynamic aneurysms, dolichoectasia of elongated and local dilations of arteries, pathological tortuosity up to looping; damage to the veins (pathological tortuosity, varicose veins of the upper and lower extremities, hemorrhoidal 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 deposition of blood in the peripheral veins.
Vascular syndrome, as a rule, manifests itself in adolescence and young adulthood, progressing with increasing age of patients.
Changes in blood pressure: idiopathic arterial hypotension.
Thoradiaphragmatic heart: asthenic, constrictive, pseudostenotic, pseudodilation variants, thoradiaphragmatic cor pulmonale.
The formation of the thoradiaphragmatic heart occurs in parallel with the manifestation and progression of deformation of the chest and spine, against the background of valvular and vascular syndromes. Variants of the thoradiaphragmatic heart reflect a violation of the harmonious 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 the tissue structures of the myocardium itself, in particular, its muscle and nerve elements.
In patients with a typical asthenic constitution, asthenic variant of the thoradiaphragmatic heart, characterized by a decrease in the size of the heart chambers with “normal” systolic and diastolic thickness of the walls 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 during systole, which indicated the hyperreactivity of compensatory mechanisms against the background of prevailing sympathetic influences. It has been established that the determining factors in changes in the 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.
In some patients with a pronounced form of CTD and various variants of chest deformation (funnel-shaped deformity of the I, II degree) in conditions of a decrease in the volume of the chest cavity, a “pericarditis-like” situation with the development of 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. As the stroke volume of the heart decreases, a compensatory increase in total peripheral resistance occurs.
In a number of patients with chest deformity (funnel-shaped deformity of the third degree, keeled deformity), when the heart is displaced, when it “moves away” from the mechanical effects of the chest bone, rotating and accompanied by “torsion” of the main vascular trunks, the formation of false stenotic variant of the thoradiaphragmatic heart. “Stenosis syndrome” of the ventricular outlet 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 stage 2 and 3 keeled chest deformities, an enlargement of the aorta and pulmonary arteries is detected, which is associated with a decrease in vascular elasticity and depends 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 right side of the heart and the mouth of the pulmonary artery. Formed pseudodilation variant of the thoradiaphragmatic heart.
In the group of patients with differentiated CTD (Marfan, Ehlers-Danlos, Stickler, osteogenesis imperfecta syndromes), as well as in patients with undifferentiated CTD who have a combination of severe deformities of the chest and spine, the morphometric changes in the right and left ventricles of the heart coincide: the long axis and the area of the ventricular cavities, especially at the end of diastole, reflecting a decrease in myocardial contractility; end- and mid-diastolic volumes decrease. There is a compensatory decrease in total peripheral vascular resistance, depending on the degree of decrease in myocardial contractility and the severity of deformities of the chest and spine. The steady increase in pulmonary vascular resistance leads in this case to the formation thoradiaphragmatic pulmonary heart.
Metabolic cardiomyopathy: cardialgia, cardiac arrhythmias, disturbances of repolarization processes (I degree: increase in T V2-V3 amplitude, T V2 > T V3 syndrome; II degree: T inversion, downward displacement of ST V2-V3 by 0.5-1.0 mm ; III degree: T inversion, oblique ST shift 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 DST does not have specific subjective symptoms and clinical manifestations, however, 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 extrasystole of various gradations; multifocal, monomorphic, less often polymorphic, monofocal atrial extrasystole; paroxysmal tachyarrhythmias; pacemaker migration; atrioventricular and intraventricular blocks; anomalies in impulse conduction along additional pathways; ventricular preexcitation syndrome; long QT interval syndrome.
The detection rate of arrhythmic syndrome is about 64%. The source of cardiac arrhythmia may be a focus of impaired metabolism in the myocardium. When the structure and function of connective tissue is disrupted, a similar substrate of biochemical origin is always present. The cause of heart rhythm disturbances in DST can be valvular syndrome. The occurrence of arrhythmias in this case may be due to the strong tension of the mitral valves, which contain muscle fibers capable of diastolic depolarization with the formation of bioelectrical instability of the myocardium. In addition, the appearance of arrhythmias can be facilitated by a sharp discharge of blood into the left ventricle with prolonged diastolic depolarization. Changes in the geometry of the heart chambers may also be important in the occurrence of arrhythmias during the formation of a dysplastic heart, especially the thoradiaphragmatic variant of the pulmonary heart. In addition to 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 membrane by the deformed bone of the chest. One of the arrhythmogenic factors may be magnesium deficiency, detected in patients with CTD. Previous studies by Russian and foreign authors have obtained convincing data on the causal relationship between ventricular and atrial arrhythmias and intracellular magnesium content. It has been suggested that hypomagnesemia may contribute to the development of hypokalemia. At the same time, the resting membrane potential increases, the processes of depolarization and repolarization are disrupted, and cell excitability decreases. The conduction 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 absolute and prolongs relative refractoriness.
Sudden death syndrome: changes in the cardiovascular system during DST, 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 related to morphofunctional changes in the heart and blood vessels: in some cases it is caused by gross vascular pathology, which is easy to ascertain at autopsy (ruptures of aortic aneurysms, cerebral arteries, etc.), in other cases sudden death caused by factors that are difficult to verify on the dissecting table (arrhythmic death).
Bronchopulmonary syndrome: tracheobronchial dyskinesia, tracheobronchomalacia, tracheobronchomegaly, ventilation disorders (obstructive, restrictive, mixed disorders), spontaneous pneumothorax.
Modern authors describe bronchopulmonary disorders in DST as genetically determined disturbances in the architecture of the lung tissue in the form of destruction of the interalveolar septa and underdevelopment of elastic and muscle fibers in the small bronchi and bronchioles, leading to increased distensibility and reduced elasticity of the lung tissue. It should be noted that according to the classification of respiratory diseases in children, adopted at the Meeting of Pediatric Pulmonologists of the Russian Federation (Moscow, 1995), such “special” cases of respiratory diseases as tracheobronchomegaly, tracheobronchomalacia, bronchiectatic emphysema, as well as Williams-Campbell syndrome, today are interpreted as malformations of the trachea, bronchi, and lungs.
Changes in the functional parameters of the respiratory system during DST depend on the presence and degree of deformation of the chest and spine and are more often characterized by a restrictive type of ventilation disorders with a decrease in total lung capacity (TLC). The residual lung volume (RLV) in many patients with DST does not change or increases slightly without changing the ratio of forced expiratory volume in the first second (FEV1) and forced vital capacity (FVC). Some patients exhibit obstructive disorders, the phenomenon of bronchial hyperreactivity, which has not yet found a clear explanation. Patients with DST represent a group with a high risk of associated pathology, in particular pulmonary tuberculosis.
Immunological disorder syndrome: immunodeficiency syndrome, autoimmune syndrome, allergic syndrome.
The functional state of the immune system in DST is characterized by both activation of immune mechanisms that ensure the maintenance of homeostasis, and their insufficiency, leading to impaired ability to adequately rid the body of foreign particles and, consequently, to the development of recurrent infectious and inflammatory diseases of the bronchopulmonary system. Immunological disorders in some patients with DST 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. The mechanisms of formation of immune disorders in DST still remain practically unexplored. The presence of immune disorders accompanying bronchopulmonary and visceral syndromes of DST increases the risk of associated pathology of the corresponding organs and systems.
Visceral syndrome: nephroptosis and dystopia of the kidneys, ptosis of the gastrointestinal tract, pelvic organs, dyskinesia of the gastrointestinal tract, duodenogastric and gastroesophageal reflux, sphincter failure, esophageal diverticula, hiatal hernia; ptosis of the genital organs in women.
Syndrome of the pathology of the organ of vision: myopia, astigmatism, hypermetropia, strabismus, nystagmus, retinal detachment, dislocation and subluxation of the lens.
Accommodation disturbances manifest themselves at different periods of life, in the majority of those examined - during school years (8-15 years) and progresses until 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 Va resistance to activated protein C) syndromes.
Foot pathology syndrome: clubfoot, flatfoot (longitudinal, transverse), hollow foot.
Foot pathology syndrome is one of the earliest manifestations of failure of connective tissue structures. The most common is a transversely spread foot (transverse flatfoot), in some cases combined with deviation of 1 toe outward (hallus valgus) and longitudinal flatfoot 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 hypermobility syndrome: joint instability, dislocations and subluxations of joints.
Joint hypermobility syndrome in most cases is detected in early childhood. Maximum joint hypermobility is observed at the age of 13-14 years; by 25-30 years, the prevalence decreases by 3-5 times. The incidence of joint hypermobility is significantly higher among patients with severe DST.
Vertebrogenic syndrome: juvenile osteochondrosis of the spine, instability, intervertebral hernia, vertebrobasilar 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 (bite anomalies, Gothic palate, pronounced facial asymmetries); O- and X-shaped deformities of the limbs; changes in the skin (thin translucent and easily vulnerable skin, increased skin extensibility, “tissue paper” suture).
The cosmetic syndrome of CTD is significantly aggravated by the presence of minor developmental anomalies, detected in the vast majority of patients with CTD. Moreover, the vast majority of patients have 1-5 microanomalies (hypertelorism, hypotelorism, “crumpled” ears, 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 DST form a group of increased psychological risk, characterized by a reduced subjective assessment of their own capabilities, level of claims, emotional stability and performance, increased levels of anxiety, vulnerability, depression, and conformism. The presence of dysplastic-dependent cosmetic changes in combination with asthenia form the psychological characteristics of these patients: depressed mood, loss of a sense of pleasure and interest in activities, emotional lability, a pessimistic assessment of the future, often with ideas of self-flagellation and suicidal thoughts. A natural consequence of psychological distress is a limitation of social activity, a deterioration in the quality of life and a significant decrease in social adaptation, most relevant in adolescence and young adulthood.
Since the phenotypic manifestations of DST are extremely diverse and practically do not lend themselves to any unification, and their clinical and prognostic significance is determined not only by the degree of severity of a particular clinical sign, but also by the nature of the “combinations” of dysplastic-related changes, from our point of view, it is most optimal to use the terms “undifferentiated connective tissue dysplasia”, the defining variant of DST with clinical manifestations that do not fit into the structure of hereditary syndromes, and “differentiated connective tissue dysplasia, or the syndromic form of DST”. Almost all clinical manifestations of CTD have their place in the International Classification of Diseases (ICD 10). Thus, a practicing doctor has the opportunity to determine the code of the leading manifestation (syndrome) of DST at the time of treatment. Moreover, in the case of an undifferentiated form of DST, when formulating a diagnosis, all the DST syndromes present in the patient should be indicated, thus forming a “portrait” of the patient that is understandable to any doctor subsequent contact.
Diagnosis formulation options.
1. Main disease. Wolff-Parkinson-White syndrome (WPW syndrome) (I 45.6), associated with CTD. Paroxysmal atrial fibrillation.
Background disease . DST:
Thoradiaphragmatic syndrome: asthenic chest, kyphoscoliosis of the thoracic spine II degree. Asthenic variant of the thoradiaphragmatic heart, grade 2 mitral valve prolapse without regurgitation, grade 1 metabolic cardiomyopathy;
Vegetative-vascular dystonia, cardiac variant;
Moderate myopia in both eyes;
Longitudinal flatfoot, 2nd degree.
Complications: chronic heart failure (CHF) IIA, FC II.
2. Main disease. Mitral valve prolapse of the second degree with regurgitation (I 34.1), associated with a minor anomaly of cardiac development - an abnormally located chord of the left ventricle.
Background disease . DST:
Thoradiaphragmatic syndrome: stage II pectus excavatum. Constrictive variant of the thoradiaphragmatic heart. Cardiomyopathy 1st degree. Vegetovascular dystonia;
Tracheobronchomalacia. Dyskinesia of the gallbladder and biliary tract. Moderate myopia in both eyes;
Dolichostenomelia, diastasis of the rectus abdominis muscles, umbilical hernia.
Complications of the main : CHF, FC II, respiratory failure (DN 0).
3. Underlying disease. Chronic purulent-obstructive bronchitis (J 44.0), associated with dysplastic-dependent tracheobronchomalacia, exacerbation.
Background disease . DST:
Thoradiaphragmatic syndrome: keeled chest deformity, kyphoscoliosis of the thoracic spine, right-sided costal hump; pulmonary hypertension, pulmonary artery dilatation, thoradiaphragmatic cor pulmonale, mitral and tricuspid valve prolapse, grade II metabolic cardiomyopathy. Secondary immunodeficiency;
Right-sided inguinal hernia.
Complications: pulmonary emphysema, pneumosclerosis, adhesive bilateral pleurisy, stage II DN, CHF IIA, FC IV.
Questions of tactics for managing patients with DST are also open. There are currently no universally accepted approaches to the treatment of patients with CTD. Considering that gene therapy is currently unavailable to medicine, the doctor must use any methods that will help stop the progression of the disease. The most acceptable syndromic approach to the selection of therapeutic interventions: correction of the syndrome of autonomic disorders, arrhythmic, vascular, asthenic and other syndromes.
The leading component of therapy should be non-drug interventions aimed at improving hemodynamics (physical therapy, dosed exercise, aerobic regimen). However, often a significant factor limiting the achievement of the target level of physical activity in patients with DST is poor subjective tolerance of training (an abundance of asthenic, vegetative complaints, episodes of hypotension), which reduces patients’ adherence to this type of rehabilitation measures. Thus, according to our observations, up to 63% of patients have low tolerance to physical activity according to bicycle ergometry; most of these patients refuse to continue the course of physical therapy (PT). In this regard, it seems promising to use vegetotropic drugs and metabolic drugs in combination with exercise therapy. It is advisable to prescribe magnesium supplements. 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, and 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 CTD as a result of treatment with magnesium preparations.
We studied the effectiveness of stage-by-stage treatment of patients with signs of DST: at the first stage, patients were treated with the drug “Magnerot”, at the second stage a complex of physical therapy was added to the drug treatment. The study included 120 patients with an undifferentiated form of CTD with low tolerance to physical activity (according to bicycle ergometry) aged from 18 to 42 years (average age 30.30 ± 2.12 years), 66 men, 54 women. Thoradiaphragmatic syndrome was manifested by pectus excavatum of varying degrees (46 patients), keeled chest deformity (49 patients), asthenic chest (7 patients), and combined changes in the spinal column (85.8%). Valve syndrome was represented by: mitral valve prolapse (grade I - 80.0%; grade II - 20.0%) with or without regurgitation (91.7%). In 8 people, dilatation of the aortic root was detected. As a control group, 30 apparently healthy volunteers, matched by gender and age, were examined.
According to ECG data, changes in the final part of the ventricular complex were detected in all patients with DST: I degree of disturbance of repolarization processes was detected in 59 patients; Grade II - in 48 patients, grade III was determined less frequently - in 10.8% of cases (13 people). Analysis of heart rate variability in patients with CTD compared to the control group demonstrated statistically significantly higher values of average daily indicators - SDNN, SDNNi, RMSSD. When comparing heart rate variability indicators with the severity of autonomic dysfunction in patients with CTD, an inverse relationship was revealed - the more pronounced the autonomic dysfunction, the lower the heart rate variability indicators.
At the first stage of complex therapy, Magnerot was prescribed according to the following regimen: 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, a clear positive dynamics in the frequency of cardiac, asthenic and various vegetative complaints presented by patients was noted. Positive dynamics of ECG changes manifested itself in a decrease in the incidence of disturbances in repolarization processes of the first 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 effectiveness of the magnesium drug (Magnerot) in terms of reducing autonomic dysregulation and clinical manifestations of DST, a positive effect on physical performance, and the advisability of its use at the preparatory stage before exercise therapy, especially in patients with DST who initially have low tolerance to physical activity. A mandatory component of therapeutic programs should be collagen-stimulating therapy, reflecting today's ideas about the pathogenesis of DST.
To stabilize the synthesis of collagen and other components of connective tissue, stimulate metabolic processes and correct bioenergetic processes, medications can be used in the following recommendations.
1st year:
Magnerot 2 tablets 3 times a day for 1 week, then 2-3 tablets a day for up to 4 months;
For questions about literature, please contact the editor.
G. I. Nechaeva
V. M. Yakovlev, Doctor of Medical Sciences, Professor
V. P. Konev, Doctor of Medical Sciences, Professor
I. V. Druk, Candidate of Medical Sciences
S. L. Morozov
Omsk State Medical Academy of Roszdrav, Omsk
SGMA Roszdrav, Stavropol
Connective tissue is an important structural component of every system in the body. Developmental disorders at the cellular and molecular level lead to the formation of certain characteristics and predisposition to many different diseases. The changes can be minimal, limiting functionality, and quite dangerous. Medication and restorative measures for patients with connective tissue dysplasia are aimed at preventing the progression of pathology and reducing existing symptoms.
Basic information
Connective tissue dysplasia (CTD) is understood as a genetically determined change in the development and maturation of its intercellular substance, which consists of specific proteins:
- collagen;
- elastin;
- reticular fibers.
Gene mutation leads to changes in the functioning of enzymes or the cells themselves involved in the synthesis and renewal of intercellular elements of connective tissue.
The morphological basis of DST is a violation of the quantity and/or quality of collagen. This component of the cellular structure is responsible for the elasticity, strength and durability of connective tissue. Collagen, like any protein, is represented by a set of certain amino acids. Gene mutation leads to changes in the structure of molecules and their properties.
Dysplasia is literally translated as a disorder, disorder (“dis”) of education, development (“plaseo”).
In the DST group there are diseases with an established etiology and type of inheritance. Thus, Marfan and Ehlers-Danlos syndromes are identified as separate nosologies. The presence of characteristic manifestations in such patients allows us to talk about connective tissue pathology as part of a separate nosological unit. A condition in which the signs of DST do not fit into the picture of specific syndromes is classified as undifferentiated dysplasia.
Hereditary diseases require close attention, since without treatment they form a high risk of shortening life expectancy. Undifferentiated dysplasia has a more favorable course, but often worsens the condition of patients and requires medication or other correction.
Manifestations of DST
Since connective tissue is the most common (occupies 50% of the total body weight), disturbances in its structure lead to changes in various organs. This disease is characterized by a progressive nature.
As the child with DST grows, more and more may appear. The accumulation of impairments associated with the underlying condition usually ends in adults by age 35.
Manifestations of connective tissue dysplasia are varied and are described in the table:
Region or organ | Symptoms |
Skin and muscles |
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Spine |
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Rib cage | Funnel-shaped or keeled deformities |
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Hand and foot |
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Bronchopulmonary system |
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urinary system |
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Gastrointestinal tract |
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Nervous system | Autonomic dystonia |
Dysplasia in childhood
In children at birth, attention is paid to the number of stigmas of disembryogenesis (specific external signs).
Significant stigmatization indicates the need for close examination of the newborn and further vigilance in terms of the manifestation of gene diseases, CTD in particular.
Example of stigma - isolated ear fossa
Dysplasia in children gradually manifests itself as they grow and develop:
- In the first year of life, signs of DST include rickets, decreased muscle tone and strength, and excessive joint mobility. Clubfoot and hip dysplasia are also a consequence of impaired formation of connective tissue structures.
- In preschool age (5–6 years), myopia and flat feet often occur.
- In adolescents, the spine suffers, it is likely to develop, and mitral valve prolapse is detected.
Manifestations of dysplasia can be isolated. The diversity of the clinical picture often makes it difficult to diagnose the undifferentiated syndrome.
Classification
The ICD qualifies only connective tissue dysplasia, which is included in hereditary syndromes. Other conditions are indicated under the headings of immediate diseases. To summarize, we can distinguish the following forms of probable diseases:
Minor signs (1 point each) | Major signs (2 points each)) | Severe symptoms (3 points each) |
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The severity of dysplasia is determined by the sum of the points received:
- up to 9 - mild or mild;
- 10–16 - average or moderately expressed;
- 17 or more - severe or pronounced.
Disability is determined in accordance with the leading underlying disease. Undifferentiated DST can act only as a background condition.
Correction methods
Patients with connective tissue dysplasia undergo basic normalization of lifestyle and nutrition, nutritional support with certain elements and vitamins, and therapy or surgical treatment of established conditions. Certain diseases (myopia, scoliosis, cardiac dystrophy) are treated together with specialists (ophthalmologist, orthopedist, cardiologist).
People with dysplasia are advised to avoid heavy physical activity and prolonged static stress. Daily gymnastics and aerobic exercise (3 times a week) have a positive effect. Swimming and cycling for up to 1 hour have a pronounced effect.
The diet should be rich in protein foods. The menu includes jellied fish and jellied meat. In case of decreased appetite, half an hour before meals, use folk remedies in the form of dandelion infusion or wormwood decoction (1/4 cup each). Additionally, taking vitamins C, E, D, B6 is indicated.
Drug therapy involves the use of magnesium preparations (Magne B6, Magnerot, etc.) or mineral complexes and metabolic agents (Mildronat, Mexicor, Mexidol). Drug treatment is carried out in two or three courses per year for up to 1–2 months, depending on the chosen drug.
