Friday, July 18, 2008

Uh, so what is Ehlers-Danlos Syndrome?

Ok, here's what Ehlers-Danlos is for those who want to know.

"Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. Depending on the individual mutation, the severity of the disease can vary from mild to life-threatening. There is no known cure. Treatment is supportive."

"Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a "glue" in the body, adding strength and elasticity to connective tissue.

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is a distinct disorder that "runs true" in a family. "

The symptoms I live with are:
Skin hyperextensibility
Wide atrophic scars
Subcutaneous spheroids
Manifestations of tissue fragility
Skin involvement (soft, smooth and velvety)
Joint hypermobility
Recurrent joint dislocation
Chronic joint or limb pain or both
Thin, translucent skin
Intestinal fragility
Extensive bruising
Early-onset varicose veins
Gingival recession

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