Ehlers-Danlos

Ehlers-Danlos syndromes (EDS) are a group of rare genetic disorders affecting humans. They are caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen, such as mutations in the COL5A or COL3A genes.

Types

There are thirteen types of EDS that have been identified. These include:

• Classical EDS (cEDS) - characterized by highly elastic, smooth, and velvety skin; abnormal wound healing and scarring; and loose joints.
• Vascular EDS (vEDS) - characterized by possible arterial or organ rupture.
• Hypermobile EDS (hEDS) - characterized by generalized joint hypermobility and soft skin.

Symptoms

Symptoms of EDS can vary widely based on the type and severity of the disorder. Common symptoms include:

• Joint hypermobility
• Skin that is easily bruised or damaged
• Chronic pain
• Fatigue

Diagnosis

Diagnosis of EDS typically involves genetic testing to identify mutations in specific genes. Clinical evaluations, including examination of family history and physical symptoms, may also be used.

Treatment

There is currently no cure for EDS. Treatment typically involves managing symptoms and preventing complications. This may include physical therapy, pain management, and, in some cases, surgery.

See also

• Marfan syndrome
• Osteogenesis imperfecta
• Alport syndrome

External links

• The Ehlers-Danlos Society

Ehlers-Danlos Resources
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