Elhers-Danlos Syndrome and its Diagnosis

Only 5% are diagnosedEhlers-Danlos Syndrome is a painful disability that requires a different lifestyle. The first challenge is the diagnosis.

Ehlers-Danlos Syndrome is actually a group of genetic disorders that cause problems with a patient’s connective tissues, according to Dr. Salman Kirmani, an expert on EDS at the Mayo Clinic. Collagen and other proteins in the connective tissues act like glue to support your skin, bones, blood vessels and internal organs. There are three main types of EDS — hypermobility, classical, and vascular — but many others exist. A specific diagnosis is determined by the degree of symptoms a patient experiences. With hypermobility, patients experience extreme double-jointedness, joint dislocation and joint pain. Classical EDS adds hyperelastic (or super stretchy), fragile skin to that list. The third most common type, vascular EDS, is the most dangerous. It results in weakness in blood vessels and internal organs that can rupture at any time. EDS can be misdiagnosed for a long time, Kirmani said. Doctors may do a genetic blood test or skin biopsy to confirm but not all of the genes that cause the various types have been identified.

This article presents a good, brief summary explaining what EDS is and how it affects the body.

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