Background/Purpose:

Ehlers-Danlos syndrome is a group of inherited conditions caused by genetic mutations in collagen genes, such as COL5A, COL3A, etc, resulting in defects in the structure, production, or processing of collagen or proteins that interact with collagen.  The phenotypes of Ehlers-Danlos syndrome vary tremendously among different subtypes or individuals within the same subtype.  The present study focuses on retrospective review of subjects who were diagnosed with Ehlers-Danlos syndrome type III, the hypermobility joint syndrome.  Individuals of hypermobility joint syndrome often present with hyperextensible joints, chronic back pain, joint pain, among other phenotypic changes.  Since hypermobility joint syndrome is also a result of genetic mutations resulting in multiple defects with collagen synthesis or function, it is conceivable that individuals with this syndrome are more likely to present with rheumatological disorder. The central hypothesis of the present study is that hypermobility joint syndrome increases the prevalence of rheumatological conditions.  

Methods: A chart review of electronic medical records at Dartmouth-Hitchcock Medical Center between July 2009 and June 2015 was performed.  Once the subjects were identified, detailed chart review was performed to confirm a diagnosis of Ehlers-Danlos syndrome hypermobility type.  Pertinent information obtained includes age of diagnosis of hypermobility joint syndrome, gender, any rheumatological conditions such as autoimmune diseases, non-autoimmune conditions (i.e. fibromyalgia), or structural defects, serological workup, and laboratory findings. Subjects were further sorted into the categories of “no rheumatological workup” (ie physical exam only), “limited workup” (ie only ANA and RF), or “complete workup” (all serological markers, HLA B27, ESR, and CRP, etc).

Results: A total of 158 subjects have been identified so far. Of these, 12 subjects were male (age range 8-46) and 146 were female (age range 13-74), with average age at diagnosis of 28.9 years and 36.2 years, respectively. Among the 103 subjects without workup, 5 (4.85%) also had a rheumatological diagnosis (psoriasis or preexisting seronegative RA). Among the 23 subjects with limited workup, 5 (21.74%) presented with a rheumatological disease (psoriasis, RA, PMR). Of the 32 subjects with complete workup, 16 (50%) also had a rheumatological disease (psoriasis, PsA, SS, RP, uveitis, enthesopathy, uSpA, autoimmune thyroiditis, AS, scoliosis, Scheurmann’s disease, primary hypogammabulemia, pernicious anemia, fibromyalgia, RA). 

Conclusion:

We found that Ehlers-Danlos type III is highly associated with rheumatological conditions, including RA, psoriasis, PsA, fibromyalgia, etc. Based on the finding that these conditions were more prevalent in subjects with complete workup (50%) versus limited (21.74%) or no workup (4.85%), we conclude that rigorous serological studies are necessary to generate a complete clinical understanding and improve symptomatic control in this patient population.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/ehlers-danlos-syndrome-hypermobility-type-type-iii-is-associated-with-rheumatological-conditions/