Ehlers-Danlos Syndrome

Pheochromocytoma Syndrome (EDS)

Ehlers-Danlos syndrome description

Ehlers-Danlos syndrome (SED) – Group of hereditary diseases, that affect connective tissue, by giperplastičnost′. There are at least 6 different types of SED. They are classified by type of fabric, to which they affect, and affected genes.

The cause of the syndrome, Ehlers-Danlos syndrome

The cause of the syndrome, Ehlers-Danlos syndrome is a mutation in the genes, responsible for the production of connective tissue.

Most types of SED affects collagen synthesis. Collagen is an important part of the connective tissue, letting it stretch.

Risk factors for the emergence of the syndrome of Ehlers-Danlos syndrome

The presence of family members, patients with SED, increases the likelihood of this disease.

Symptoms of Ehlers-Danlos syndrome

Symptoms of SED in different people may be different. Some patients may have minor symptoms. Others may have severe symptoms, threatening their lives.

The most common symptoms of SED include problems with joints and skin. Joints become loose, very much gnuŝimisâ, which can cause:

• Swelling;
• Sprain;
• Dislocation of joints (sprains, loss of joint bags);
• Joint pain;
• Flatfoot.

The skin becomes too soft, fragile, and can easily stretch. This can cause the following problems:

• Bruises, as a result of damage to the vessels;
• Light cuts can escalate into serious wounds;
• Slow and poor healing wounds;
• Difficulty with skin stapling, as the skin tends to tear;
• Scars from wounds or sprains;
• Rough growths above scarring;
• Kal′cificirovannye nodules under the skin;
• Increased risk of surgical complications.

Other symptoms depend on the type of SED in a patient. They can include problems with various bodies:

• Eyes:
  • Myopia;
  • Epicanthal folds – skin fold on either side of the nose can cover the inside corner of the eye, often seen in children with SED;
  • Fragile sclera, white outer layer of the eyeball;
  • The hole in the eyeball (rarely);
• Lungs – loss of normal tissue elasticity;
• Chronic pain in the bones and muscles;
• Blood vessels – a weak fabric could lead to anevrizme of the aorta and tearing of blood vessels;
• Blood clotting – may cause bruising and bleeding;
• Heart valves – mitral valve prolapse;
• The gums – bleeding and disease;
• Gastrointestinal tract:
  • Hernia;
  • Diverticulosis;
  • Perforation or bleeding from the gastrointestinal tract;
• Pregnancy:
  • Miscarriage;
  • Rupture of membranes;
  • Bleeding during pregnancy and excessive bleeding during or after childbirth;
  • Uterine rupture;
• Complications from the operations.
• Muscles – low muscle tone and motor activity.

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Diagnosis of Ehlers-Danlos syndrome

The doctor will ask about your symptoms and medical history, and perform a physical exam. This, usually, enough, to diagnose the syndrome, Ehlers-Danlos syndrome in most patients the disease. When diagnosis remains uncertain, additional tests may include:

• Skin biopsy – to detect anomalies in the connective tissue;
• Definition of specific biochemical defect – for some types of SED

Ehlers-Danlos syndrome treatment

At the moment there are no treatments for Ehlers-Danlos syndrome. Treatment may be needed to control symptoms, or in order, to prevent complications.

Treatment of symptoms of Ehlers-Danlos syndrome

Treatment will depend on the type of disease and severity of complications.

Treatment of complications of skin:

• For some subtypes of SED can be a useful intake of vitamin C. This can help reduce bruising and improve wound healing;
• Particular attention should be paid to the treatment of skin wounds. This can help prevent or reduce scarring.

Treatment of complications of the musculoskeletal system:

• Medications can help reduce pain;
• To cure joint damage, surgical intervention may be necessary.

It was necessary to monitor the possible emergence of other dangerous complications, for example, the occurrence of complications of blood vessels. Your doctor may prescribe a regular survey of major blood vessels.

If a strong bleeding blood transfusion may be necessary.

Reducing the risk of causing harm to the body

Some steps can help reduce the likelihood of complications:

• To strengthen the joints use elastic bandage;
• To strengthen muscles, go in for sports;
• To help strengthen muscles and joints, It is necessary to undergo a course of physical therapy;
• Daily apply sunscreen to the skin;
• Avoid actions, that can lead to injuries, bruising or stretching of joints;
• Consult your doctor about the possible complications of pregnancy.

Ehlers-Danlos syndrome prevention

At the current time there is no way to prevent the syndrome of Ehlers-Danlos syndrome. If you have a SED, or someone in the family is sick of the disease, You can refer to a genetic counselor when deciding to have children. Consultant can tell you about the risks the appearance of SED in a child.

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