What is Vascular Ehlers-Danlos Syndrome?
I get this question a lot. And usually when I try to explain it, I also get a glazed-eye-with-open-mouth look in response. Still, I’ll do my best to define it here.
Vascular Ehlers-Danlos Syndrome (vEDS) is a genetic connective tissue disorder which makes organ and vascular tissue very fragile. The fragile portion of that definition means that for someone with vEDS (that’s me!), blood vessels, arteries, and organs are prone to spontaneous rupture. The genetic portion of that definition means that it is usually inherited, and also that it is caused by a genetic mutation, specifically a mutation of the COL3A1 gene.
Here’s a Quick Genetic Lesson from Someone Who Barely Remembers High School Biology:
Our DNA is made up of genes. And genes tell our bodies what to do and how to produce things that our bodies need. One of those things is protein and the body makes all different kinds of proteins. Collagen is one of those proteins and the body makes all different types of collagen.
Collagen is like glue; it provides structure and holds the body together. Collagen is found in connective tissues. Connective tissues are called connective tissues for a reason. They keep stuff connected.
The COL3A1 gene instructs the body how to produce Type III Collagen, which is found in the skin, lungs, intestinal walls, and the walls of blood vessels and arteries. Since the COL3A1 gene is mutated for those with vEDS, Type III Collagen isn’t made correctly. So for someone with vEDS, the connective tissues in the skin, lungs, intestines, blood vessels, and arteries are fragile. Hence the spontaneous rupture thing.
The COL3A1 gene can mutate in one of two ways: it either doesn’t produce enough collagen, or it produces a normal amount of collagen, but it’s all faulty.
What Happens to Someone with Vascular Ehlers-Danlos?
Every vEDS patient experience is different, but the disorder manifests itself in similar ways. Those with vEDS often bruise easily and have thin, translucent skin with a lack of subcutaneous (that would be under the skin) tissue. Lobeless ears and hypermobility in small joints are common. And then there’s the spontaneous rupture thing. This means expecting things like a perforated colon (yep, I’ve had that), aneurysms (got em), carotid artery dissection (check), miscarriage and pre-term labor (check, check), collapsed lung (currently not on my medical chart), and aortic dissection (thankfully, not yet). Dissection is a fancy medical way of saying your arteries just cannot adult anymore and they promptly tear.
The life expectancy of someone with vEDS is usually cut short. According to Google, the average life expectancy is around 48 years, although I’ve heard that stat may be rising to 50-ish years. Ongoing blood pressure management and quick triage by medical teams that know how to handle vEDS in the event of an acute emergency are key to survival.
Here’s Why You Might Have Heard of Ehlers-Danlos Before:
Ehlers-Danlos Syndrome is actually a group of connective tissue disorders. There are four types of Ehlers-Danlos. There used to be six and they used to be called by roman numerals, not names, but don’t ask me about that because I can’t keep up with the changing nomenclature. All I know is that the most current information on EDS was presented at the 2016 Ehlers-Danlos Global Learning Conference in Baltimore. I was there (thank you friends and supporters!) and experts at the conference said that there are now just four main types and they have names, not numbers. So here they are with a grossly understated description:
- Classical Ehlers-Danlos – they have stretchy skin
- Vascular Ehlers-Danlos – they have stretchy blood vessels and organs
- Hypermobile Ehlers-Danlos – they have stretchy joints
- Rarer Types of Ehlers-Danlos – I did not take enough biology to accurately describe these types
Here’s Why You Might Not Have Heard of Ehlers-Danlos Before:
It’s pretty rare, especially the vascular, and uh, rarer types. The current diagnostic stats say that Vascular Ehlers-Danlos occurs in about 1 out of every 250,000 people. If you’re pulling out your calculator like I did, that’s four in a million. But. Geneticists (mine and the nation’s expert on vEDS) say that vEDS might be more prevalent, but it may be under-diagnosed. Unfortunately, vEDS often isn’t recognized until someone dies from it.
Cures? Treatments? Isn’t there something you can take?
Nope. Nada. Nothing. Vascular Ehlers-Danlos is incurable and untreatable. In our modern world, where medicine is advancing faster than I can learn common core math, this is hard to accept. But this is the reality. I have been told by doctors to prepare my bucket list and live my life well. Staying calm and keeping my blood pressure low will help with that. Good thing I’m a yogi.
What’s With the Zebra Thing?
Apparently, it’s the EDS mascot. Something about an old saying in the medical world that when you hear hoofbeats think horses, not zebras. Most people visiting a doctor would have a common ailment with a common treatment – those would be the horses. But EDS peeps are zebras. Basically, it means EDS is rare. Zebras are cool. I’m down.
You Said it was Inherited?
Yes, I inherited this from my mother. She died at 37 because of it, but we didn’t learn the real reason for her death until my diagnosis in 2016. If someone has vEDS, there is a 50% chance that they would pass it on to each of their children. Sometimes though, vEDS can result from a spontaneous genetic mutation, in which case it would just be…spontaneous…and not inherited.
A year ago I didn’t even know how to spell Vascular Ehlers-Danlos. I’m obviously not a doctor and am trying to educate myself on this thing every day. I’ll update this page as I learn more. But in the meantime, if you have a question that I didn’t answer, feel free to contact me here or you can read more about Ehlers-Danlos here.
Until next time, I’m off to chase my bucket list.