I was clinically diagnosed with classical EDS in 2017. At the time, I was informed genetic testing was approximately 50% accurate, not worth pursuing due to expense and chance of being negative. When the diagnostic criteria changed shortly thereafter, recommending classical EDS (cEDS) be tested, as genetic testing was then considered 80-90% accurate, I asked about genetic testing. Because my clinical diagnosis was being taken seriously, I was getting needed treatment, precautions were being taken with procedures, genetic testing was again determined not worth the expense.
I am a reader and learner. I am aware that a couple more variants in classical EDS have been found and reported in the literature in the past year. This further confirmed in my mind that genetic testing was not guaranteed to be insightful.
I had some serious complications with some surgeries several months ago. It was all thought to be due to EDS, diagnosis not questioned. However, it got me reading deeper into things. I'd had emergency GI surgery that found perforated bowel, addressed that, resulting in temporary colostomy. I read about EDS and bowel perforations, learning all types of EDS can have bowel perforation from colonoscopy, surgeries, etc. The main type of EDS with reported spontaneous bowel perforations was vascular. I was never quite clear on exact cause of perforation in my case, but since I was post up another GI surgery when it happened, figured it was combination of weak tissues and recent GI surgery. I never questioned if classical EDS diagnosis was correct. However, a recent test showed very unexpected findings. This test was a preliminary check to determine if rectal stump had healed well and was ready to reconnect to reverse the colostomy. It was a barium enema of the rectal stump. I was watching on screen, because I always do this if screen is visible. After the procedure, the radiologist went back and showed me the images, explaining things as he did so. He showed me the sealed end of the rectum where it had been surgically closed after removal of sigmoid colon several months prior. He pointed out that no dye was getting through. This was good as this was most likely place for leaks, but showed I had healed well from surgery. This was good news, was anticipated. However, he went on to show me where swirls of dye were leaking out along the side of the rectum. This was not at all normal, was very unexpected, he was not sure other than probably connective tissue disorder related. Oh my. That left me sort of in shock as I knew if leaking, there was no chance of reconnecting things to reverse colostomy until it had healed. But, the new leak raised questions if I'd ever be able to be reversed if my body had either never healed, or apparently had a new leak, since this was a different area then would be expected. Additionally, since it appeared to be a new leak, raised questions regarding vascular EDS, because of spontaneous perforation--new leak unprovoked. From reading, I knew that in vascular EDS reversal surgery to reconnect GI tract to rectum is contraindicated.
Not unexpected, my surgeon said reversal this summer is impossible, and he recommended against ever reversing. He said what he saw in surgery months prior, what happened then, this test result, made him very concerned. He said I am very high risk of leaks, perforation, sepsis, and likely death, if we try. That being said, he recommended second surgical opinion, said we can try repeating the test in a few months and see what it shows.
Long story short, I was worked in for geneticist appointment on urgent basis after explaining the situation. Clinically, I definitely have a connective tissue disorder, have characteristics of classical, hypermobile, vascular, but was told there is overlap between them. The exam and history do not build a strong case for vascular, but the bowel perforations are concerning, worth genetic testing. Classical EDS is typically mutations in COL5A1, or COL5A2. Vascular EDS (vEDS) is typically caused by mutations in COL3A1. My understanding from the geneticist is if testing is normal, we keep current clinical classical EDS diagnosis. Best case scenario, testing confirms classical, worst case scenario, testing shows vascular. The geneticist was reassuring, told me not to worry. She said there is a COL1A1 mutation that is associated with vascular issues in classical EDS. She also said some vascular is milder than others, and with how far I got (30s-40s) before serious issues, she suspects if vascular, it is mild. We will discuss things further once we have results. I will either edit to update this post once I have results, or will write a second part.
Edited to update 9/19/19. RESULTS
The results from the genetic testing are back. I am negative for vascular EDS! This is a huge relief! I am also negative for everything else tested. I was told testing for vascular EDS is 98-99% accurate, thus it is pretty confidently ruled out. However, testing for classical EDS is approximately 90% accurate, thus 10% of patients with classical EDS will test negative. A negative test does not rule out a clinical diagnosis. Hypermobile EDS has no genes identified. I was told to keep my clinical diagnosis. If asked for details, I have clinical diagnosis, with negative molecular testing.
Resources
2017 Classical EDS
2017 Hypermobile EDS
2017 Vascular EDS
Vascular characteristics in classical EDS
New discoveries in variants in classical EDS
New information in vascular EDS
COL3A1 in Vascular EDS
COL5 mutations in Classical EDS
Avoid ostomy reversal surgery in vEDS
COL1A1
COL3A1
COL5A1
COL5A2
Bowel perforation in EDS
Bowel perforation in vEDS
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