Ehlers–Danlos syndromes

Ehlers–Danlos syndromes (pronounced: AY-lers DAN-lowz) are a group of genetic disorders that primarily affect the skin, joints, and blood vessels. The term originates from the names of two physicians, Edvard Ehlers and Henri-Alexandre Danlos, who first described the condition in the early 20th century.

Classification

Ehlers–Danlos syndromes are classified into thirteen types, each with distinct features and varying degrees of severity. These include the Classical type, Hypermobile type, Vascular type, and others. Each type is caused by mutations in specific genes.

Symptoms

Common symptoms of Ehlers–Danlos syndromes include skin hyperelasticity, joint hypermobility, and tissue fragility. Other symptoms can include easy bruising, chronic pain, and in severe cases, life-threatening complications such as aortic dissection.

Diagnosis

Diagnosis of Ehlers–Danlos syndromes is typically based on clinical evaluation, family history, and genetic testing. The Beighton score is often used to assess joint hypermobility, a common feature of the condition.

Treatment

There is currently no cure for Ehlers–Danlos syndromes. Treatment is focused on managing symptoms and preventing complications. This can include physical therapy, pain management, and in some cases, surgery.

Prognosis

The prognosis for individuals with Ehlers–Danlos syndromes varies depending on the type and severity of the condition. Some individuals may have a normal lifespan with few complications, while others may experience significant disability or life-threatening complications.

External links

Medical encyclopedia article on Ehlers–Danlos syndromes
Wikipedia's article - Ehlers–Danlos syndromes

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Ehlers–Danlos syndromes