Ehlers-danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that primarily affect the skin, joints, and blood vessels. EDS is known for its hallmark features of hypermobility, skin hyperextensibility, and tissue fragility.

Types of Ehlers-Danlos syndrome

There are thirteen recognized types of EDS, each with distinct characteristics and genetic causes. The most common types are the Hypermobile, Classical, and Vascular types.

• Hypermobile EDS (hEDS) is characterized by loose joints and chronic joint pain. This type does not have a known genetic marker.
• Classical EDS (cEDS) is characterized by highly elastic, smooth skin that bruises easily and severe scarring.
• Vascular EDS (vEDS) is the most serious form of EDS due to the possibility of arterial or organ rupture.

Symptoms

Symptoms of EDS can vary widely based on the type and severity of the condition. Common symptoms include joint hypermobility, skin that is easily bruised and stretches excessively, and fragile tissues. More severe symptoms can include aortic dissection and organ rupture, particularly in individuals with Vascular EDS.

Diagnosis

Diagnosis of EDS typically involves genetic testing to identify mutations associated with the different types of EDS. However, as there is currently no known genetic marker for Hypermobile EDS, diagnosis of this type is based on clinical evaluation and family history.

Treatment

There is currently no cure for EDS. Treatment is focused on managing symptoms and preventing complications. This can include physical therapy for joint instability, pain management for chronic pain, and regular monitoring for potential complications such as heart problems.

See also

• Marfan syndrome
• Osteogenesis imperfecta
• Pseudoxanthoma elasticum
• Loeys-Dietz syndrome

NIH genetic and rare disease info

• NIH info on Ehlers-danlos syndrome

Ehlers-danlos syndrome is a rare disease.

Ehlers-danlos syndrome Resources
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