Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, strengthening, and providing elasticity to bodily cells and tissues. Due to defects of collagen, primary EDS symptoms and findings include abnormally flexible, loose joints (articular hypermobility) that may easily become dislocated; unusually loose, thin, stretchy (elastic) skin; and excessive fragility of the skin, blood vessels, and other bodily tissues and membranes.
The different types of EDS were originally categorized in a classification system that used Roman numerals (e.g., EDS I to EDS XI), based upon each formís associated symptoms and findings (clinical evidence) and underlying cause. A revised, simplified classification system (revised nosology) has since been described in the medical literature that categorizes EDS into six major subtypes, based upon clinical evidence, underlying biochemical defects, and mode of inheritance.
Each subtype of EDS is a distinct hereditary disorder that may affect individuals within certain families (kindreds). In other words, parents with one subtype of EDS will not have children with another EDS subtype. Depending upon the specific subtype present, Ehlers-Danlos syndrome is usually transmitted as an autosomal dominant or autosomal recessive trait.
EDS syndromes are heritable disorders of the connective tissues, and.as such, the disorders are present at birth. However, symptoms may not be noticeable until later in life.
Mortality is not an important feature of EDS, with the exception of type IV EDS. Median life expectancy for patients with type IV EDS is 50 years because of the tendency for spontaneous rupture of medium-sized arteries, the GI tract, or both.
There is no specific cure for Ehlers-Danlos syndrome, so individual problems and symptoms must be evaluated and cared for appropriately. Frequently, physical therapy or evaluation by a physician specializing in rehabilitation medicine is needed.