Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a name given to a group of hereditary connective tissue disorders which are caused by a defect in a protein called collagen. Collagen is a fibrous protein which acts as a “glue” providing strength and support to collective tissues. Collagen plays an important role in providing strength and elasticity to the skin, muscles, blood vessels, ligaments, tendons,cartilage and other organs. Defect in collagen may lead to fragile skin with easy bruising, stretchy skin, loose joints and weakness of tissues and many other associated conditions.

Ehlers-Danlos syndrome is a uncommon with no racial predominance and female are equally affected as male. There are several types of EDS which are classified according to their signs and symptoms but almost all types of EDS may affect your skin and joints.

How Ehlers-Danlos syndrome is diagnosed ?

Ehlers Danlos syndrome diagnosis is usually made by the presenting clinical symptoms and a family history. To confirm the diagnosis and determine its type, a skin biopsy may be required.

Common symptoms of Ehlers Danlos Syndrome

Signs and symptoms of EDS may differ in types and Severity of the disease. Most common are of those related to joints and skin.
Joints:
Loose and hypermobile joints which are prone to dislocation. It involves all joints but fingers are most commonly affected. Joint pain is common and often may be associated with early osteoarthritis.
Skin:
Skin is very fragile resulting in easy bruising, severe scarring and poor or slow would healing. Skin may be very stretchy but will maintain its normal elastic recoil when released. Small fibrous lumps ranging from 2 – 3 cm may develop over the pressure points like knee and elbow. Few people may present with small firm nodules beneath the skin surface of shins and arms. Varicose veins are common.

Other less common findings may be mitral valve prolapse, gum disease and Scoliosis. Weakening of arteries, intestinal wall and uterus in EDS may increase the risk of rupture and bleeding.

Is there a cure for Ehlers-Danlos syndrome ?

There is no cure for Ehlers Danlos Disease and treatment options are often unsatisfactory. There is no specific treatment for Ehlers-Danlos syndrome and treatment are usually based upon managing your presenting symptoms and prevent further complications. Special precautions are to be taken to prevent accidental injuries by avoiding participation in contact sports and protecting your elbows, knee joints and lower legs which are more prone to injury. For unstable joints braces may be used for support and if needed with regular orthopedists consultation. Moreover your physical or occupational therapist may help with specific exercise that helps to strengthen your muscles. Taking Vitamin C may help in tissue repair and collagen synthesis.

If you or your family have Ehlers-Danlos syndrome you are advice to get a Genetic counseling to access the risk of inherited disorder before starting a new family or planning for a baby.