Description Ehlers-Danlos syndr...
Description
Ehlers-Danlos syndrome (EDS) is a group of rare inherited disorders that affect connective tissues (blood vessel walls, skin and joints). The syndrome causes joint hypermobility, stretchy skin, multiple joint dislocations, and poor wound healing. Some patients with this syndrome are at risk for serious medical problems, such as arthritis, blood vessel rupture and pregnancy complications.
Symptoms
Symptoms vary but usually include joint hypermobility, joint pain, stretchy skin, multiple joint dislocations, poor wound healing and blood vessel rupture (bleeding emergency).
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical exam will be performed. The diagnosis can usually be made on clinical exam findings alone. Occasionally, genetic testing is required. X-rays or blood vessel imaging may be performed if there is an active medical problem.
Tests:
CT angiogram, X-ray
Other Specific Tests: Genetic testing,
Specialists:
Internal Medicine, Orthopedic Surgery, Family Practice, Clinical Genetics, Physical Medicine and Rehabilitation (physiatry), Pediatric Orthopedic Surgery
Workup:
A history and physical exam will be performed. The diagnosis can usually be made on clinical exam findings alone. Occasionally, genetic testing is required. X-rays or blood vessel imaging may be performed if there is an active medical problem.
Tests:
CT angiogram, X-ray
Other Specific Tests: Genetic testing,
Specialists:
Internal Medicine, Orthopedic Surgery, Family Practice, Clinical Genetics, Physical Medicine and Rehabilitation (physiatry), Pediatric Orthopedic Surgery
Treatment
There is no specific treatment for this syndrome. Therapy is aimed at relieving symptoms and preventing complications. Over-the-counter and prescription pain relievers may be used as needed. Blood pressure medicine may be prescribed to reduce stress on weakened blood vessels and help prevent rupture. Physical therapy may help prevent dislocations.