The clinical side of VEDS

Let’s get technical!

Vascular Ehlers-Danlos Syndrome (VEDS) is a rarity even to medical professionals, so I know it’s new to many of you. I'd never heard of it until my diagnosis at the age of 33. Several different subtypes of EDS exist (including hypermobile, classical, and vascular). It has some clinical similarities to Loeys–Dietz and Marfan syndromes, in case you’ve ever heard of those. You can read more about my personal medical journey here.

VEDS affects approximately 1 in 40,000 to 50,000 people worldwide (or 8,000 cases in the US).

VEDS is an incurable genetic condition affecting the body’s connective tissue. The VEDS body produces defective collagen, which is the most abundant protein and serves as the building blocks for the entire body making up the skin, muscles, ligaments, tendons, large organs, blood vessels, and arteries. Broken building blocks mean a weakened structure throughout.

Signs of VEDS

Two major indicators of VEDS are 1) arterial, intestinal, and uterine rupture (I’ve had two of these) and 2) a family history of these issues. It's unknown if I inherited this from either of my parents, as both of them are gone now from events unrelated to VEDS, or if it was a spontaneous mutation.

Other minor indicators can include

• thin, translucent skin (yes, me!)

• notable facial features such as large eyes, thin/narrow nose, thin lips, and small chin (also me)

• extensive bruising (definitely me!)

• aged appearance of hands (maybe me?)

• small joint (finger) hypermobility

• congenital dislocation of the hip

• clubfoot

• occurrence of collapsed lung (nope for me on the last four).

Complications and Lifestyle Implications from VEDS

Life expectancy is dramatically shortened in both men and women with VEDS (median lifespan is around age 51), with the most frequent cause of sudden death being arterial rupture. Bowel rupture is common in 25%-30% of VEDS patients. (My colon ruptured spontaneously at the age of 20.) Some literature states about 15% of VEDS patients have true aneurysms - I have numerous aneurysms throughout my body (both treated and untreated).

Having MRAs (a special type of MRIs for blood vessels) or CT scans on a regular basis is recommended to look for/monitor asymptomatic dissections, aneurysms, or vascular issues. I have scans annually if nothing is acting up, more often if something is concerning. It’s recommended to keep blood pressure and heart rate in the normal to low-normal range to minimize impact on the vascular system. (I’m on daily medication to do this.) Contact sports and high-impact exercise that raises the heart rate above 130 is also cautioned against. (Sports isn’t really a concern for this uncoordinated gal.)

Elective surgeries and invasive medical tests that can weaken the arterial wall or intestines are discouraged. Pregnancy risks and catastrophic complications occur in about half of VEDS pregnancies, including premature rupture of membranes with pre-term delivery, rare uterine rupture during labor (yes, me), and antepartum and post-partum hemorrhage (yep, check).

So here’s the deal. Experts agree there is no settled care plan. Patients should get regular monitoring, as some complications are asymptomatic (even the life-threatening ones). And a knowledgeable care team – or at least doctors who can connect with the experts – is essential in the case of emergency or trauma situation.

Medical Zebras

Zebras are a symbol of rare diseases and a mascot for those with Ehlers-Danlos syndromes. Why? The Ehlers-Danlos Society explains:

“Medical students have been taught for decades that, ‘When you hear hoofbeats behind you, don’t expect to see a zebra.’ In other words, look for the more common and usual, not the surprising, diagnosis.” BUT, as the EDS Society notes, "Sometimes when you hear hoofbeats, it really is a zebra.”

Because EDS is so rare, many patients spend decades trying to get a correct diagnosis; so they’ve adopted the rare zebra as their symbol. I’m learning that we VEDS zebras are a strong dazzle (the term for a herd of zebras! cool, huh?), surviving some pretty insurmountable medical events. Now when I see a zebra or something with zebra print, I smile a little and remember to pray for my zebra brothers and sisters across the globe.

*Much of this information was adapted from materials from the former EDNF.org and the Ehlers-Danlos Society websites. See the Marfan Foundation Fact Sheet for more information.