Yesterday’s post started our discussion of something referred to as Ehlers-Danlos syndrome, a commonly misunderstood and quite rare genetic disorder. Don’t stress if you’re unfamiliar with it, because I would wager most people are; I was, too, until I began educating myself on the matter because I may have it myself.
There are two categorizations of this disorder; Ehlers-Danlos syndrome, and Vascular Ehlers-Danlos syndrome. Continue reading to learn more about both, with this information coming from mayoclinic.org.
“There are many different types of Ehlers-Danlos syndrome, but the most common signs and symptoms include:
- Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Joint pain and dislocations are common.
- Stretchy skin. Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety.
- Fragile skin. Damaged skin often doesn’t heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly.
“Vascular Ehlers-Danlos syndrome
- People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.
- Vascular Ehlers-Danlos syndrome can weaken your heart’s largest artery (aorta), as well as the arteries to other regions of your body. A rupture of any of these larger blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or large intestines — which also may rupture.
“Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems. For hypermobile Ehlers-Danlos syndrome, the most common form, there is no genetic testing available,” the web page states.
Unfortunately, there is no distinct cure for either type of this syndrome, but there are some treatment options to alleviate discomfort and complications.
Photo by Robina Weermeijer on Unsplash
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