What is Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is a group of rare genetic disorders that affect the connective tissue, such as collagen, in the joints, blood vessels and skin. There are six major types of EDS:
- hypermobility (the most common type; formerly type III)
- classical types I & II
- vascular (type IV)
- kyphoscoliosis (type VI)
- arthrochalasis types (VIIA & B)
- dermatosparaxis type (VIIC)
All types affect the joints and most types affect the skin.
EDS is an inherited disorder, caused by at least one copy of an altered gene.
Symptoms
The symptoms of EDS can vary depending on type. They can range from mild to life threatening. Common symptoms include:
- loose joints
- chronic joint or muscle pain
- hypermobility in the hands, fingers and toes
- easy bruising
- skin that is very loose or elastic
- wounds that don’t heal easily
- muscle weakness
Diagnosis
Some types of EDS can be diagnosed with a DNA test. Other types of EDS may be diagnosed using one or more of the following tests:
- skin biopsy to find abnormalities in the collagen
- urine test to check for abnormal levels of certain substances
- heart ultrasound to check for heart problems that can occur with some types of EDS
Treatment
There is no cure for EDS, but various treatments can help manage symptoms. These treatments may include medication to relive pain, physical and occupational therapy, and bracing to help stabilize the joints.
Learn more about Pediatric Cardiology services at Boston Children’s Health Physicians.
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