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About Vascular Ehlers-Danlos Syndrome – The Rescued Letters

About Vascular Ehlers-Danlos Syndrome

About Vascular Ehlers-Danlos Syndrome | www.rapid-quilt.flywheelstaging.com

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 that 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, with the average life expectancy around 50 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. According to the Ehlers-Danlos Society, there are currently thirteen known subtypes of Ehlers-Danlos (maybe you’ve heard of Hypermobile EDS or Classical EDS). But each type manifests in different ways. A grossly understated example of this is that some of us have fragile blood vessels and organs (that’s the Vascular crowd) while others have unstable and hypermobile joints (that’s the Hypermobile crowd).

Here’s Why You Might Not Have Heard of Ehlers-Danlos Before:

It’s pretty rare, especially the vascular, and uh, rarer types. It has been estimated that Vascular Ehlers-Danlos occurs in about 1 out of every 250,000 people. My geneticist says 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.

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.

You have a son, right? Does he have it?

We had my son officially tested for vEDS when he was twelve in 2019 and we are very thankful to report that he does not have it. Vascular EDS does not skip generations and he cannot pass it on to his children. So that means it ends with me. Praise Jesus. 

Anything Else?

I’m obviously not a doctor, but I try to educate myself on Vascular Ehlers- Danlos Syndrome as much as I can. 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.

Listen to my vEDS diagnosis story

I’m so thankful to my friend and fellow Vascular Ehlers-Danlos warrior, Katie, for sharing vEDS patient stories in her Staying Connect Podcast. One of the biggest challenges for rare disorders is the need for advocacy and awareness. I am thankful for Katie’s work in the vEDS community and honored to share some of my story here.

Katie and I chat about the medical events that led to my vEDS diagnosis, what I would tell someone who is newly diagnosed, and a bit about how I manage the anxiety that came with it.

Three images: a zebra, a while female, and a hospital IV.