Ehlers-Danlos syndrome , EDS
Type of disease: Rare conditions
Ehlers-Danlos syndrome (EDS) is a group of disorders that affect connective tissues, which are tissues that provide support to many parts of the body including skin, bones, blood vessels, tendons, ligaments, and other organs. EDS is an inherited disorder caused by a defect in the structure, production, or processing of collagen, which helps connective tissues stay strong and resist deformation, or with the proteins that interact with collagen. Abnormal collagen causes connective tissue to be more elastic, leading to varying degrees of complications.
The most common symptoms of EDS are an unusually large range of joint movement (hypermobility), soft velvety skin, skin that is abnormally stretchy (hyperextensible) and chronic pain. EDS is considered an “invisible disability” and is often misdiagnosed as other conditions including hypochondriasis, depression, and chronic fatigue syndrome. EDS is classified into six major types (please see the specific EDS-type entry for details). The most common is the Hypermobility type, followed by Classical, Vascular, Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis types.
Although mutations within a few genes have been associated with some of the EDS types, genes for all types have not yet been discovered. Thus, not all forms of EDS can be diagnosed by a genetic test. Some types of EDS are inherited in an autosomal dominant manner (a mutation in one copy of a gene is enough to cause EDS), while other types are caused by mutations in both copies of a gene (autosomal recessive). EDS is a lifelong condition and does not have a cure. The use of occupational and physical therapy, such as orthopedic braces, help manage symptoms of EDS. If you have been diagnosed with EDS, talk to your doctor about the most current treatment options. In addition, a genetic counselor can help discuss inheritance and risks to other family members. Support groups are available for more resources and information.