Connective tissue dysplasia
The content of the article:
- Causes and risk factors
- Forms of the disease
- Disease stages
- Symptoms
- Diagnostics
- Treatment
- Possible complications and consequences
- Forecast
Dysplasia of connective tissue (from ancient Greek δυσ - "violation" and πλάθω - "form") - a violation of the development of tissue, organ, organ system.
Connective tissue dysplasia is understood as such a genetically determined abnormality of tissue development, in which the ratio of collagen fractions is changed (or their deficiency is noted), defects of both fibrous structures and their own substance are formed. The result is multiple dysfunctions at all levels of organization, from the cellular to the organismal.
Articular syndrome is one of the signs of connective tissue dysplasia
Connective tissue consists of intercellular substance, inclusions of various cells and proteins (collagen and elastin). It accounts for more than half of all body tissues; connective tissue fulfills cartilage, ligaments, tendons, musculoskeletal system, form-forming elements of internal organs, subcutaneous fat, etc. and constitutes the internal environment of the body.
Due to such a wide representation, a violation of the structure of the named type of tissue can manifest itself as a pathology of almost any organ, determining the systemic nature and extent of the lesion.
The data on the prevalence of pathology are very contradictory: according to the results of modern studies, connective tissue dysplasia is determined in 13–80% of the population.
The designating term was proposed at the end of the 20th century by the Scottish physician R. Beyton as a name for the pathology of the connective tissue, in which its strength decreases. Despite the spread and decisive role in the development of many diseases and pathological conditions, connective tissue dysplasia is not allocated in the International Classification of Diseases as a separate heading.
Causes and risk factors
The causes of the disease are varied; they can be divided into 2 main groups: hereditary and acquired.
A genetically determined disorder of the structure of the connective tissue occurs due to the inheritance (more often in an autosomal dominant pattern) of mutant genes responsible for coding the formation and spatial orientation of fine fibrous structures, protein-carbohydrate compounds and enzymes.
Genetically determined dysplasia is formed due to the inheritance of mutant genes
Acquired connective tissue dysplasia is formed at the stage of intrauterine development and is a consequence of exposure to such factors during pregnancy:
- viral infections transferred in the first trimester (ARVI, influenza, rubella);
- severe toxicosis, gestosis;
- chronic infectious diseases of the genitourinary sphere of the expectant mother;
- taking certain medications during pregnancy;
- unfavorable ecological situation;
- industrial hazards;
- exposure to ionizing radiation.
Forms of the disease
The following forms are distinguished:
- Differentiated connective tissue dysplasia (hereditary), which includes about 250 pathologies (for example, Marfan, Ehlers-Danlos syndromes, Aliber's dermatolysis, hereditary familial hemorrhagic nephritis, arthroophthalmopathy).
- An undifferentiated form that combines many heterogeneous forms of connective tissue diseases.
Types of connective tissue dysplasia
The hereditary form of the disease is quite rare, it represents a small share in the total structure of dysplasia.
Disease stages
Many studies indicate the staging of the onset of dysplasia symptoms in different age periods:
- during the neonatal period, the presence of connective tissue pathology is most often indicated by low weight, insufficient body length, thin and long limbs, feet, hands, fingers;
- in early childhood (5-7 years), the disease is manifested by scoliosis, flat feet, excessive range of motion in the joints, keeled or funnel-shaped deformity of the chest;
- in school-age children, connective tissue dysplasia is manifested by valve prolapse, myopia (myopia), dysplasia of the dentoalveolar apparatus, the peak of the diagnosis of the disease falls on this age period.
Symptoms
All symptoms can be roughly divided into external manifestations and signs of damage to internal organs (visceral).
External manifestations of connective tissue dysplasia:
- low body weight;
- a tendency to increase the length of the tubular bones;
- curvature of the spinal column in various departments (scoliosis, hyperkyphosis, hyperlordosis);
- asthenic physique;
- an altered chest shape;
- deformation of the fingers, violation of the ratio of their length, overlapping toes;
- symptoms of the thumb, wrist joint;
- congenital absence of the xiphoid process of the sternum;
- deformation of the lower extremities (X- or O-shaped curvatures, flat feet, clubfoot);
- pterygoid scapula;
- various posture changes;
- hernias and protrusions of intervertebral discs, instability of the vertebrae in different parts, displacement of the structures of the spinal column relative to each other;
- thinning, pallor, dryness and superelasticity of the skin, their increased tendency to trauma, positive symptoms of a tourniquet, pinching, the appearance of areas of atrophy;
- multiple moles, telangiectasias (spider veins), hypertrichosis, birthmarks, increased fragility of hair, nails, vascular network clearly visualized;
- articular syndrome - excessive range of motion in symmetrical (as a rule) joints, increased tendency of the articular apparatus to traumatize.
Connective tissue dysplasia in a child
In addition to the above external manifestations, connective tissue dysplasia is characterized by minor developmental anomalies, or the so-called stigmata (stigma) of dysembryogenesis:
- characteristic structure of the face (low forehead, pronounced brow ridges, a tendency to fusion of eyebrows, flattening of the nasal back, Mongoloid eyes, close-set or, on the contrary, wide-set eyes, heterochromia, squint, low upper eyelids, fish mouth, Gothic palate, violation of the structure of the dentition, deformation of the bite, shortening of the frenum of the tongue, deformation of the structure and location of the auricles, etc.);
- structural features of the body (divergence of the rectus abdominis muscles, umbilical hernia, low-lying navel, additional nipples are possible, etc.);
- anomalies in the development of the genitals (underdevelopment or hypertrophy of the clitoris, labia, foreskin, scrotum, undescended testes, phimosis, paraphimosis).
Single small anomalies are normally determined in healthy children who are not carriers of the disease, therefore, confirmation of at least six stigmas from the list listed is considered diagnostically reliable.
Visceral symptoms of the disease:
- pathologies of the cardiovascular system - prolapses or asymmetric structure of the valves of the valve apparatus of the heart, damage to the structures of the vascular bed (varicose veins, aortic aneurysms), the presence of additional tendon filaments (chords) of the heart, structural reconstruction of the aortic root;
- damage to the organs of vision - myopia, subluxation or flattening of the lens;
- bronchopulmonary manifestations - airway dyskinesia, pulmonary emphysema, polycystic;
- damage to the digestive tract - dyskinesia, anomalies in the structure of the gallbladder and ducts, gastroesophageal and duodenal reflux;
- pathology of the urinary system - prolapse of the kidneys (nephroptosis), their uncharacteristic location or complete and partial doubling;
- structural anomalies or displacement of the internal genital organs.
Diagnostics
The basis for the correct diagnosis of connective tissue dysplasia is a thorough collection of anamnestic data, a comprehensive examination of the patient:
- detection of oxyproline and glycosaminoglycans in blood and urine tests;
- immunological analysis for the determination of C- and N-terminal telopeptides in blood and urine;
- indirect immunofluorescence with polyclonal antibodies to fibronectin, different collagen fractions;
- determination of the activity of the bone isoform of alkaline phosphatase and osteocalcin in serum (assessment of the intensity of osteogenesis);
- study of histocompatibility antigens HLA;
- Ultrasound of the heart, vessels of the neck and abdominal organs;
- bronchoscopy;
- FGDS.
With dysplasia of connective tissue, glycosaminoglycans and hydroxyproline are detected in urine and blood tests
Treatment
Quite often, the manifestations of the disease are not very pronounced, are rather cosmetic in nature and do not require special medical correction. In this case, an adequate, dosed regimen of physical activity, adherence to a regimen of activity and rest, a full-fledged fortified, protein-rich diet are shown.
If necessary, drug correction (stimulation of collagen synthesis, bioenergetics of organs and tissues, normalization of glycosaminoglycans and mineral metabolism) are prescribed drugs of the following groups:
- vitamin and mineral complexes;
- chondroprotectors;
- stabilizers of mineral metabolism;
- amino acid preparations;
- metabolic agents.
Possible complications and consequences
Complications of connective tissue dysplasia:
- trauma;
- a decrease in the quality of life with a high involvement of organs, systemic damage;
- joining somatic pathology.
Forecast
In most cases, the prognosis is favorable: the existing anomalies in the structure of the connective tissue do not significantly affect the labor and social activity of patients.
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Olesya Smolnyakova Therapy, clinical pharmacology and pharmacotherapy About the author
Education: higher, 2004 (GOU VPO "Kursk State Medical University"), specialty "General Medicine", qualification "Doctor". 2008-2012 - Postgraduate student of the Department of Clinical Pharmacology, KSMU, Candidate of Medical Sciences (2013, specialty "Pharmacology, Clinical Pharmacology"). 2014-2015 - professional retraining, specialty "Management in education", FSBEI HPE "KSU".
The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!
