Diagnosis Spotlight: Vascular Ehlers-Danlos Syndrome

Diagnosis Spotlight: Vascular Ehlers-Danlos Syndrome

February of 1996 was the beginning of the end for David Bowen and his family. When the 13-year-old began experiencing abdominal pain and vomiting, his mother Cathy drove him to the hospital. There, doctors diagnosed him with a perforation of the sigmoid colon with peritonitis. The surgeon performed a colostomy (Bowen, n.d.).

Eight days later, an intern began taking the staples out. But “the skin started spreading apart in the middle and bleeding like a fresh wound” (Bowen, n.d.). Cathy voiced her concerns, but the surgeon didn’t listen. It took David almost a month to recover, but no one knew why.

During his young life, David had already experienced “large bowel movements, a torn ACL ligament . . . double hernias and hypospadis” (Bowen, n.d.). But none of that accounted for his inability to heal.

Three months later, doctors reversed the colostomy. During the procedure, the surgeon discovered a lot of scar tissue and adhesions. During his recovery, David experienced pain, infection, constant nausea, and projectile vomiting. Liquid stool also began to ooze from his incision. His doctors insisted that walking would improve his condition. By that afternoon, however, David was struggling to remain conscious. As David continued to decline, his doctors continued to dismiss his symptoms (Bowen, n.d.).

Then, Cathy had her son transferred to another facility. There, they discovered that David had sepsis, internal bleeding, a hematoma, four perforations, abscesses, and blood clots. The next morning, David endured his third surgery and another painful recovery. Hours later, he bled out and died. He was just 14 years old (Bowen, n.d.).

Meanwhile, a different surgeon from the first hospital had reviewed his case. He contacted Cathy, revealing that he probably had Ehlers-Danlos syndrome. The news came as a shock. “My son’s not overly bendy,” she thought. Then, a geneticist confirmed that David had vascular Ehlers-Danlos syndrome (Bowen, n.d.).

The Basics

Vascular Ehlers-Danlos syndrome one of the six types of EDS. It is a rare connective tissue disorder that causes a defect in the collagen. In other words, the glue that holds a person together simply does not work properly. Some people inherit the disease from family members, while others have a de novo case. Connective tissue supports many of our internal structures and organs, thus vascular EDS can manifest throughout the body. Of the six types, vascular EDS is the most rare and the most dangerous (Learn About EDS, 2015).

Like the other types, vascular EDS can cause joint laxity, soft skin, easy bruising, and lipedema (Learn About EDS, 2015). But those with the vascular type are also at an increased risk of blood clots, strokes, arterial ruptures, and organ ruptures (Vascular Type, 2015).

Vascular EDS is also an invisible illnesses, meaning that it doesn’t always present itself in obvious, visible ways. In David’s case, he was sick for 14 years before doctors figured it out. And like so many with invisible illnesses, doctor after doctor dismissed him again and again.

Unique Symptoms

All forms of EDS have some common symptoms, but the vascular type has some distinctions as well. And while each patient experiences vEDS differently, there are a number of symptoms that can occur:

  • Debilitating fatigue
  • Fragile, thin and translucent skin with visible veins, especially over the chest and abdomen
  • The vEDS face, which includes “protruding eyes, a thin nose and lips, sunken cheeks, and a small chin” (Ritter Rules for Aortic Diseases, 2010)
  • An inability to donate blood and organs
  • Thin scalp hair
  • Short stature
  • Mitral valve prolapse
  • Vitiligo
  • Cyanosis of the lips, fingernails and toenails in response to cold temperatures
  • Gastrointestinal complications
  • Postural orthostatic tachycardia syndrome
  • Recessed gums
  • Hypermobility of small joints
  • Congenital clubfoot
  • Early-onset varicose veins
  • Sleep difficulties, including insomnia, unrestorative sleep, and more

Diagnostic Options

If CrowdMed’s medical detectives suggest vascular Ehlers-Danlos, your doctor can confirm the diagnosis via three different tests:

  1. A skin biopsy: Standard labs will only test the biopsy for melanoma. Thus, patients must submit the sample to a specialty facility such as the University of Washington’s Collagen Diagnostic Laboratory, GeneDx, or the National Institutes of Health. Once you receive your bill, the Collagen Diagnostic Laboratory can provide you with financial assistance options.
  2. A TAAD Panel: This blood test can confirm a clinical diagnosis but not eliminate it. If it comes back negative, that does not mean you don’t have vEDS (Skin Biopsy for vEDS, 2015).
  3. Genetic sequencing: It can be difficult to convince insurance companies to cover the cost, and the sequencing process can take up to six months. Patients need at least six months of health insurance or about $5,500 to cover the costs. In addition, a doctor must submit the request for the sequencing.

Treatment and Prognosis

There is no cure for vascular Ehlers-Danlos syndrome, nor is there a specific treatment. Patients must simply manage their symptoms and avoid hypertension. Patients cannot donate blood or organs. Women should avoid hormonal birth control and use extreme caution when planning a family. Typically, vEDS patients have a reduced life span and do not survive past the age of 50.

Fortunately, scientists are developing a new treatment option that could one day treat an entire list of rare and incurable diseases. The innovative technology comes in the form of an unprecedented brilliance known as gene editing. Currently, the three editing systems are ZNFs, TALENs, and the newest contender, CRISPR (Yeadon, 2014). Though clinical application is generally limited, progress is happening. In fact, scientists in London recently used TALENs to reverse a patient’s Leukemia (Russell, 2015). As this technology continues to develop, more patients are daring to hope for a healthier future.

Vascular Ehlers-Danlos syndrome is a complex and formidable disease. It has a host of symptoms and limited diagnostic and treatment options. Though the condition is intimidating, there is hope. Awareness is growing, and new treatment options are on the horizon. Every day is an opportunity to do more, David’s mother once said. “I’ll continue the fight for the sake of others, in my loving son’s name so that he didn’t die in vain . . . goodness will prevail” (Bowen, n.d.).

Resources

Bowen, C. (n.d.). David Daniel Bowen III. Retrieved November 24, 2015, from http://edstoday.org/real-faces-of-eds/david-daniel-bowen-3

Ritter Rules for Aortic Diseases. (2010). Retrieved November 24, 2015, from http://www.ehlersdanlosnetwork.org/vascular.html

Russell, P. (2015, November 6). ‘Gene Editing’ Reverses Baby’s Leukemia. Retrieved November 24, 2015, from http://www.webmd.com/cancer/news/20151106/gene-editing-baby-leukemia

Skin Biopsy for vEDS. (2015). Retrieved November 24, 2015, from https://www.inspire.com/groups/ehlers-danlos-national-foundation/discussion/skin-biopsy-for-veds/

Vascular Type. (2015). Retrieved November 24, 2015, from http://ednf.org/vascular-type

Yeadon, J. (2014, March 4). Pros and cons of ZNFs, TALENs, and CRISPR/Cas. Retrieved November 22, 2015, from https://www.jax.org/news-and-insights/jax-blog/2014/march/pros-and-cons-of-znfs-talens-and-crispr-cas#

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Published by

Deanna Brownlee

Deanna Brownlee

My name is Deanna Brownlee, and I have an undiagnosed disease. For 10 years, my unidentified illness has yielded only futility and heartbreak. As much as it has stolen from me, however, writing has always remained by my side. I am truly honored to be part of the CrowdMed team.