Ehlers-Danlos Syndrome Diagnosis Round 2

I wrote previously about my diagnosis with Ehlers-Danlos syndrome. Well, I appear to be on round two of diagnosis, this time pursuing genetic testing. Things are still in process, thus results unknown at this time. However, sometimes I find recording or reading about the process can be helpful as medical journeys tend to be more about living through the process than the end result.

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

Copyright © 2019 by Chronic Wholeness. All rights reserved.

Raising Awareness: Ehlers-Danlos Syndrome Diagnosis

May is Ehlers-Danlos syndrome awareness month. I figure this is a good time to share more about my story with being diagnosed with Ehlers-Danlos syndrome (EDS).

I had a relatively healthy and normal childhood, I thought. However, I had an awful lot of emergency room visits for dislocated elbow, fainting episodes, injuries requiring stitches, broken bones, head injuries, etc. I also had frequent stomach aches since I can remember, and chronic nausea starting early teens. Chronic fatigue also started early teens. I learned to live with it.  After various work-ups, I ended up having surgery to remove nasal polyps when I was 14 years old. That was supposed to help with sinus issues, and hopefully fatigue as well, if fatigue was related to decreased ability to breathe freely through my nose. It didn't help with fatigue. It didn't fully resolve sinus issues and I was informed polyps were back again ten years later. I chose to avoid surgery.

Fast forward a few years, and I injured my Achilles tendon just reaching to wash off the top of something. It would not heal. I limped off and on for years, confused as to why it would not heal, but no idea what to do.

Another several years later and a car accident (I was rear ended, it totaled the car), introduced me to constant, never-ending neck and back pain. I could not figure out why my body would not heal. I could not figure out why the pain would not go away.

It took another 15 years, more surgeries, tons of testing, lots of work-up by numerous specialists, to finally be diagnosed with EDS. That is the very brief summary, presented as dramatic understatement. There was so much discouragement, frustration, even despair at times during those years. Multiple misdiagnoses. I was incorrectly diagnosed with fibromyalgia (this was later ruled out by a different physician). I was tested for myasthenia gravis, glycogen storage diseases, mitochondrial disease, multiple sclerosis, etc. I lived many years with no diagnosis, but with my medical team knowing there was something underlying the numerous symptoms.

How is EDS typically diagnosed? It is often suspected by physical therapist, orthopedist, possibly primary care physician. Referral is made to a geneticist. Based on clinical signs and symptoms, the type of EDS is determined, then confirmed with genetic testing for most types. The most common type of Ehlers-Danlos syndrome, the hypermobile type, does not have the gene(s) identified yet. Thus, there is no genetic test for it. Classical EDS is second most common, vascular EDS is third most common, but is rare, more serious.

How is EDS treated? This varies dramatically. For some people with EDS, a rheumatologist manages things. For others, their primary care physician is the one who manages things. What are the treatments? Essentially trial and error. Physical therapy to help strengthen to support the joints is important. There is no cure. There is no specific treatment plan that works for all.

How did I come to be diagnosed? My orthopedic surgeon for my hips suspected I had EDS, recommended I be evaluated. I knew he was familiar with EDS, trusted him, so followed through on this recommendation even though I was convinced I was not hypermobile, could not have EDS. I saw a rheumatologist who said I was not hypermobile, not worth referring to genetics, dismissed concerns. However, she had told me she was not familiar with EDS. I knew my hip surgeon was. My physical therapist encouraged me to keep pushing for answers as she knew there was something. I ended up seeing a family medicine physician who was familiar with EDS. It turns out she has EDS herself. She easily found my numerous characteristics, determined that although it is subtle, I do have hypermobility. She diagnosed me with classical EDS. This was 2017, shortly before the new diagnostic criteria were released. Thus, at the time, genetic testing for classical EDS was considered 50% accurate, I was told it was not worth the expense. When the criteria changed, it was stated genetic testing for classical EDS was then 80-90% accurate, was recommended to be done. However, a negative test did not rule out a clinical diagnosis. Since in my case we needed to know what we were dealing with to better inform surgery decisions, genetic testing was never pursued.

We are pretty sure my orthopedic surgeries are a result of the EDS. Both hips have had surgery, both shoulders have issues. These are a mix of laxity, instability, with structural abnormalities.

Over a year after diagnosis, I am still grateful to finally know what was causing so many different issues. I am still learning how to manage all of it. Using compression clothes, kinesiology tape, gentle bracing to help support joints. Working on strengthening in physical therapy. Managing mast cell activation syndrome (MCAS) with antihistamines, mast cell stabilizers. MCAS seems to be driver of flares in most instances with me.

Resources
March 2017 special edition of The American Journal of Medical Genetics devoted to EDS
2017 classifications of EDS types
March 2017 Classical EDS
MCAS & EDS

Copyright © 2018 by Chronic Wholeness. All rights reserved.