May 29, 2012

What is Elhers-Danlos Syndrome?


Gioia found out she had Ehlers-Danlos Syndrome at the age of 7. For years her parents had struggled to figure out why their daughter was so easily injured, but doctors couldn’t offer a 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…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.

Additional coverage: KY Post (Ohio), KTVX Ore., KERO Calif, KRDO Colo., KTBS La.


CNN Blog By Jacque Wilson

Tags: CNN Blog, collagen, Dr. Salman Kirmani, Ehlers-Danlos Syndrome, Genomics

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