Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome: understanding, diagnosis and treatment

Ehlers-Danlos syndrome, also known as elastic skin syndrome, is a group of genetic disorders that affect connective tissue in the human body. This syndrome is named after the two doctors who first described its features: Danish dermatologist Edward Ehlers and French physician Alexandre Danlos.

Ehlers-Danlos syndrome is hereditary and manifests itself in various forms. It can affect various organ systems, including the skin, joints, blood vessels and internal organs. The main signs of this syndrome are hyperelasticity of the skin, ease of bruising, hypermobility of the joints and laxity of the ligaments.

Patients with Ehlers-Danlos syndrome typically have softer, velvety, and firmer skin. They may also experience problems with wound healing and early skin aging. Joint hypermobility can lead to an increased risk of joint dislocations and injuries. In addition, patients may experience symptoms of vascular dysplasia, such as easy bruising, bleeding, and cardiovascular problems.

Diagnosis of Ehlers-Danlos syndrome is based on clinical examination and assessment of family history of diseases. Additional tests, such as genetic tests, may be performed to confirm the diagnosis and determine the specific subtype of the syndrome.

Treatment for Ehlers-Danlos syndrome is aimed at relieving symptoms and managing complications. This may include physical therapy to strengthen muscles and joints, regular exercise, and tips to prevent joint damage. In addition, it is important to provide good skin support and avoid traumatic situations that could worsen the patient's condition.

In some cases, consultation with other specialists, such as cardiologists, ophthalmologists or gastroenterologists, may be necessary to manage complications associated with organ damage.

Although Ehlers-Danlos syndrome is a chronic condition, with proper care and symptom management, most patients can lead active and fulfilling lives. However, it is important to note that each patient may have unique characteristics and needs, so it is important to consult individually with medical professionals.

In conclusion, Ehlers-Danlos syndrome is a genetic disorder that affects connective tissue in the body. It is manifested by skin hyperelasticity, joint hypermobility and other characteristic signs. Diagnosis is based on clinical examination and genetic testing, and treatment is aimed at relieving symptoms and managing complications. With early diagnosis and adequate care, most patients with Ehlers-Danlos syndrome can lead active, quality lives.

Ehlers-Danlos syndrome is a genetic disease associated with impaired collagen synthesis. It causes various symptoms such as weakness, joint pain, skin wrinkles and stretch marks, eye abnormalities, poor wound healing and many others. This is a serious and incurable disease, but with the development of medicine, science has already begun to work on studying it and improving treatment methods.

The most common form of Ehlers-Danlos syndrome is the mildest form of this syndrome - Edmonton. The clinical manifestations of this disease include hyperelasticity of the skin due to collagen deficiency, which leads to high extensibility during physical activity, decreased elasticity, and poor healing of cuts and abrasions. Hyperelasticity of the joints also leads to their excessive mobility and causes pain. Another manifestation of the disease may be the presence of telangiectasia - dilated capillaries in places of increased physical stress on the joints. If the chest is damaged, congenital diaphragmatic hernia may form. The diagnosis is confirmed by studying the spectrum of collagen using mass spectrometry methods.

Symptoms with varying degrees of severity can appear not only in adults, but also in children, which makes it difficult to diagnose Ehlers syndrome at a younger age.

The causes of Elersovia-Daniil syndrome can be both heredity and genome mutations. There are three types of gene mutations that cause elersensidiosis: * Elastic mutant of collagen 1 - which causes increased elasticity of the skin * Mutant of collagen with the addition of cinnamine - increased elasticity of all tissues, especially the skin (hyperelastic elastic tissue) * "Bisphenol" DNA mutant of collagen - increased weakness tissues (DNA recombination interval)

Edmond's syndrome occurs due to the fact that defective copies of the gene that encode the synthesis of elastin and collagen are integrated into the DNA structure before the sexual reproduction process occurs and remain there forever.

Among the diseases similar to Ehlers-Daniel syndrome are connective tissue defect and Kohler fibrosis, which is also inherited and affects the lungs - up to 80% of the lung tissue is completely or partially lost. In both cases, as a result of insufficient strength of the connective tissue, cirrhosis and cicatricial deformities of the skin, eyeball, and internal organs develop.