"What is Ehlers-Danlos Syndrome"

In the classical classification, the syndrome is divided into 11 types, but at present, the modern one is more relevant, which includes only 7 subtypes:

• classical - transmitted directly from parents to a child, characterized by excessive mobility of the joints, even minor injuries provoke the appearance of abrasions and hematomas;
• vascular - transmitted directly from parents or occurs in one generation, if it is present, the veins protrude significantly under the skin, the most dangerous consequences are ruptures of the intestines and arteries;
• kyphoscoliosis - transmitted by an autosomal recessive type, which means that it can manifest itself only in one generation, there are significant curvatures of the spine and changes in the eyeball;
• hypermobile - transmitted directly from parents, a high probability of joint injuries, which very loose;
• dermosporaxis – confirmed by skin biopsy, characterized by saggy and very soft skin;
• arthroclasis – various inheritance options, the main symptom is short stature and pathological changes in the skin;
• tenascin-X deficiency.

Causes

The main factor that leads to the formation of this pathology is considered to be a mutation of a certain gene, leading to a decrease in the activity of certain enzymes and the appearance of hydroxylysine in collagens. The prevalence of pathological processes throughout the body is due to the presence of connective tissue in many systems.

Subtypes of Ehlers-Danlos syndrome have different origins due to different inheritance pathways, biochemical defects and primary molecular abnormalities.

The life expectancy of patients depends on the type of pathology. But in general, they have to lead a difficult lifestyle associated with the constant risk of injury. This leads to restrictions in the choice of profession and motor activity.

Symptoms

Signs that may indicate the presence of this pathology:

• weak motor development;
• even minor damage to the skin leads to a lacerated wound, which then heals for a long time;
• highly stretchable skin that separates well from the elbows, knees, collarbones, cheeks and other areas;
• a large number of dark brown freckles;
• significant posture disorders (scoliosis, kyphosis, lordosis);
• subarachnoid hemorrhage is possible;
• abnormally strong joint mobility, the ability to bend the fingers in the opposite direction and hyperextend other joints;
• periodontosis;
• flat feet;
• aneurysm of the cerebral vessels;
• umbilical, diaphragmatic, inguinal hernia;
• severe spread of caries;
• ptosis of various internal organs (uterus, stomach, kidneys);
• problems with the organ of vision (rupture of the eyeball, ptosis, retinal detachment, periorbital fullness);
• fragmentary adontia;
• spontaneous intestinal perforation;
• multiple scars on the skin (keloid or tissue paper-like);
• extra teeth, opalescent enamel;
• vegetative-vascular dystonia;
• excessive bleeding;
• varicose veins;
• mobile subcutaneous nodules on the shin;
• arrhythmia;
• mitral valve prolapse;
• frequent dislocations.

Diagnostics

To identify the disease, you should make an appointment with a geneticist. It is he who makes a diagnosis based on molecular genetic studies, anamnesis, genealogical information and clinical signs.

For some types of the disease, it is necessary to conduct a biopsy of the skin area, which is then examined by histological, electron microscopic and histochemical methods.

In addition, the patient will need consultations with a cardiologist, therapist, traumatologist, dentist, orthopedist, ophthalmologist and vascular surgeon to determine the optimal course of treatment.

Treatment

Means to improve the patient's condition:

• taking a vitamin and mineral course, certain amino acids, metabolic medications, glucosamine and chondroitin sulfate;
• limiting all physical activity to maximize reduce the risk of injury to the skin and joints;
• maintaining a healthy diet, which includes a large amount of proteins (including jellied dishes, aspic and meat broths);
• physiotherapy (electrophoresis, magnetic therapy, laser puncture);
• massage sessions;
• therapeutic physical training exercises;
• constant medical supervision.

Some defects can be corrected with surgery. Most often, this is the correction of chest deformities, removal of pseudotumors, correction of congenital heart disease.

In general, the prognosis for life is favorable; if desired, the patient can have children, but first he should consult with a geneticist about the possibility of transmitting a pathogenic gene to offspring.

Prevention

The only way to find out about the presence of a future pathology is to conduct invasive prenatal diagnostics during pregnancy and a visit to a geneticist.