Ehlers-Danlos: The Underdiagnosed Chronic Pain Syndrome
I was establishing a new primary care patient at my practice in Vermont, when a strange diagnosis caught my eye. The phrase Ehlers-Danlos Syndrome or EDS popped of the page. I looked up from my chart at the young woman sitting in front of me. She was on the short side, higher than average weight and no “spider fingers” or arachnodactyly. The opposite of the “typical” EDS patient. Of course, one of my first questions was, “Tell me about your EDS diagnosis”. She had been having joint and muscle pain for years, none of the tests came back positive for things like Lupus or Rheumatoid arthritis. Then her rheumatologist asked her about hypermobility.
Ehlers-Danlos Syndrome is a “Rare” genetic disorder resulting in weak collogen. Collogen is important to all connective tissue and in EDS this weakness results in joints that have in increased range of motion (hypermobility), skin that stretches, easy bruising, and poor wound healing. There is often joint and muscle pain because of recurrent injuries since the tendons and ligaments are weak. These recurrent injuries over time result in early onset arthritis which brings about more chronic pain. Because of the weakness in these ligaments and tendons, the connective tissue disorder patient tends to be tall and leaner than average with long arms, legs and fingers resulting in classic “spider fingers”. This is what we are taught in school anyway and shown pictures of.
Reality is that there are 13 types of EDS depending on the exact gene mutation with the milder “Hypermobile” form being the most common. The most severe form “Vascular EDS” can result in weaker blood vessels and increased risk of aneurysm, which can be fatal. So it is important if EDS is suspected to run genetic testing to clarify which type. This wide range of possibilities also means that many patients will go undiagnosed because like the young woman in my office… they don’t look like the pictures we see in medical school.
The great thing about EDS is that there is an easy test you can do at home to check hypermobility. This test is called the Beighton Scoring system and it is a 9-point scale. The Ehlers-Danlos Society has a great page with a demonstration that I’ll link here. If you score over 5/9, then you should discuss this with your doctor. The young woman at the beginning of this blog had tested positive, so her rheumatologist referred her for genetic testing and found that she had the mildest form. The treatment involves physical therapy to teach exercises that strengthen the muscles around the joints, so they are less likely to dislocate or overstretch a tendon. Low level anti-inflammatory supplementation and exercise. A simple solution for pain this woman had been dealing with her whole life as well as being able to exit the merry-go-round that is searching for a diagnosis for chronic pain. While this is considered a “rare” disorder, many go undiagnosed and it may be more common than we think, so if you deal with chronic joint and muscle pain and have signs of hypermobility, check with your doctor about EDS.
Sources:
1. Mayo Clinic Staff. Ehlers-Danlos syndrome. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125. Published October 16, 2020. Accessed October 11, 2021.
2. Assessing Joint Hypermobility. Ehlers-Danlos Society. May 18, 2021. https://www.ehlers-danlos.com/assessing-joint-hypermobility/
3. Susan Pauker, MD, Joan Stoler MD. Clinical Manifestations and Diagnosis of Ehler-Danlos Syndrome. UptoDate. Apr 22, 2020