Ehlers danlos syndrome

Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that primarily affect the skin, joints, and blood vessels. It is named after two doctors, Edvard Ehlers and Henri-Alexandre Danlos, who first described it at the turn of the 20th century.

Types

There are thirteen recognized types of EDS, each with its own set of symptoms and genetic causes. These include the Classical type, Hypermobile type, and Vascular type, among others. Each type is considered a distinct disorder that 'runs true' in a family.

Symptoms

Common symptoms of EDS include skin hyperextensibility, abnormal scar formation, and joint hypermobility. The severity of these symptoms can vary greatly from person to person, even within the same family. Some people with EDS have only mild symptoms, while others are severely affected.

Causes

EDS is caused by mutations in various genes that produce collagen, a protein that provides strength and elasticity to connective tissues. These mutations can be inherited from one or both parents, or they can occur spontaneously.

Diagnosis

Diagnosis of EDS is based on clinical evaluation and family history. Genetic testing can confirm the diagnosis in some cases, but not all genetic causes of EDS have been identified.

Treatment

There is currently no cure for EDS, but treatment can help manage symptoms. This may include physical therapy, pain management, and surgery in some cases.

Prognosis

The prognosis for people with EDS varies depending on the type and severity of symptoms. Some people with EDS have a normal lifespan, while others may have serious, life-threatening complications.

See also

• Marfan syndrome
• Osteogenesis imperfecta
• Pseudoxanthoma elasticum

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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