Ehlers-Danlos Syndromes: Causes, Signs, Diagnosis, and Treatment

You likely haven’t given too much thought to your skin, joints, and blood vessels lately—unless you’ve suffered an wound that required stitches or a joint injury that put you off your game for a few weeks. However, for patients with Ehlers-Danlos syndromes, a set of inherited disorders that strike these connective tissues, living with joint hypermobility (or loose joints), super soft hyper-elastic skin, and weak and easily bruised skin is an everyday fact of life. In many cases, the severity of EDS can be life-threatening.

Here are the causes, symptoms, diagnosis, and treatment options for this invisible and often misdiagnosed group of disorders…

 

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1. What are Ehlers-Danlos Syndromes?

Ehlers-Danlos Syndromes (EDS), refer to a collection of inherited disorders that weaken the body’s connective tissues—namely the skin, blood vessels, and joints. As a result patients typically have neuromuscular complications due to overly flexible joints (hypermobility), stretchy (or hyper-elastic) skin, and weak blood vessels that are prone to rupture.

According to research from the Mayo Clinic, Ehlers-Danlos syndromes are thought to be the result of a defect in the structure and/or production of collagen (or proteins that intermingle with collagen) due to a mutation of the COL5A or COL3A genes. This affects the strength and elasticity of the body’s connective tissues, causes hyper-lose joints, and even end in rupture of blood vessels, the uterus, or intestine in severe conditions.  For instance, if a EDS patient with super-velvety, fragile skin requires stitches, the skin may not be strong enough to hold them.

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