Living with Vascular Ehlers Danlo

Vascular Ehlers Danlos is a very complicated and rare genetic condition that affects virtually every system in your body. It’s a defect in your Collagen III gene, which means it affects your connective tissue, organs, and every vessel in your body. The best to describe this would be that in a typical body, your vessels and skin are built like garden hose, thick, sturdy, and able to withstand pressure. In a body affected by vEDS, the vessels and skin are built like tissue paper, they are fragile and not able to withstand the same as a typical body. People living with vEDS are at a higher risk for spontaneous arterial rupture or dissection. This means that at any moment, for seemingly no reason at all, one could experience a life threatening event.

Vascular Ehlers Danlos is extremely rare and the only subtype of Ehlers Danlo that is life threatening. Many of us are familiar with and might even know someone that has a more common type of EDS called hEDS (hypermobility Ehlers Danlos). This adda another layer of confusion because many healthcare providers do not understand vEDS so symptoms are often not taken seriously and are not well understood. With friends and family, it can be equally frustrating because loved ones will often think that you can just manage the condition with medical intervention. There is no cure for vEDS. There is only anecdotal evidence that some medical interventions can help delay or prevent some medical events.

There are currently about 2,000 cases in the United States, with an estimated 5-8,000 that are not yet diagnosed.

What are some of the symptoms of vEDS?

• Frequent aches and pains

• Fatigue

• Hypotension

• Hyper-mobility

• increased bruising and wound healing

• POTS (Postural Orthostatic Tachycardia Syndrome) dizziness, and fainting, shortness of breath

• Frequent and persistent headaches

• Sleeping with eyes open

• Skin is translucent- you can often see a vEDS person’s veins in places like chest, abdomen, and arms

• Aged extremities: mature looking hands

• Early onset varicose veins

• Receding gums

• Hair loss

• Deep set eyes

• Digestive discomfort and slow motility

• Easy hyperextensions

But how does this really show up?

• A minor injury could lead to a hospital visit. A minor scrape could lead to an open, gaping wound

• Constipation could lead to a bowel rupture

• A headache could mean an aneurysm

• Headaches might be persistent and a regular occurrence

• Easy dislocations of joints, even in sleep

• Inability to walk without assistance

• Spontaneous lung collapse

• Arterial perforations and ruptures

• Increased anxiety and depression due to unknown and scary complications - ponderance of mortality

What is it like to live with vEDS?

For some, it may be obvious that there is a medical constraint, but for many, vEDS is an invisible condition. People in your outer circle might believe that everything is okay, but the hurdles to manage this are quite expansive.

• Persistent vigilance: When you live with vEDS, you are constantly trying to discern what is a “normal” ache and pain and what constitutes a visit to the ER to determine if it’s a life threatening pain.

• Medical management: Most doctors are not familiar with vEDS, so you will be the expert in the room, and that doesn’t always go well. Healthcare practitioners will often confuse with typical EDS and dismiss your symptoms. They will be upset when you advise them how to manage your care, taking your expertise as an insult to their professional knowledge. And in the event that you are concerned about a medical emergency, the only diagnostic tool that is appropriate is a CT Scan or an MRA, which many medical professionals will NOT want to provide.

• Activity Considerations: Living with vEDS also comes with many physical constraints. Due to the fragility of vessels, normal physical activity needs to be modified. To conserve the integrity of the vascular system, it should endure the least amount of stress as a possible This means:

  • No contact sports for risk of critical injury

  • No push-ups, sit-ups, isometric exercises

  • No sprinting

  • No heavy lifting

  • All activity must have a solid warm-up and cool down routine

  • However, activity is extremely important to keeping the vascular system and body healthy. The contradictions make this very complicated to manage.

How can you be supportive of your vEDS friends and family?

Living with vEDS or being a caregiver of someone with vEDS is complicated and exhausting. The best thing you can do is be supportive and understand that this experience is real and it’s scary. Do not underscore their experience. They are not attention seeking hypochondriacs. Every day can be challenging. Provide an ear to listen, a shoulder to cry on, and do not be offended when plans cancel or change due to something that is going on, even if they do not disclose what’s happening.