Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (pronunciation: /ˈeɪlərz ˈdænloʊz/, etymology: named after two dermatologists, Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France) is a group of genetic disorders that primarily affect the skin, joints, and blood vessels.
Overview
Ehlers-Danlos Syndrome (EDS) is characterized by hyperelastic skin, hypermobile joints, and fragile tissues. The syndrome is caused by mutations in genes responsible for the structure, production, or processing of collagen, an important component of the connective tissues in the body.
Types
There are thirteen recognized types of Ehlers-Danlos Syndrome, each with its own set of symptoms and complications. The most common types include the Classical Type, the Hypermobile Type, and the Vascular Type.
- Classical Type is characterized by highly elastic, smooth skin that bruises easily and severe joint hypermobility.
- Hypermobile Type is primarily associated with generalized joint hypermobility and chronic joint pain.
- Vascular Type is the most serious form of EDS, as it can lead to spontaneous rupture of blood vessels and organs.
Diagnosis
Diagnosis of Ehlers-Danlos Syndrome is typically based on clinical evaluation, family history, and genetic testing. The Beighton score is often used to assess joint hypermobility, a common symptom of EDS.
Treatment
There is currently no cure for Ehlers-Danlos Syndrome. Treatment is focused on managing symptoms and preventing complications. This may include physical therapy for joint instability and pain, and surgery to repair damaged joints or blood vessels.
See also
External links
- Medical encyclopedia article on Ehlers-Danlos Syndrome
- Wikipedia's article - Ehlers-Danlos Syndrome
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