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Hypermobile EDS — SCE Rheumatology MCQ

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ModerateConnective Tissue DiseaseHypermobile EDSSCE Rheumatology

A 25-year-old woman has a Beighton score of 7/9, recurrent atraumatic shoulder and patellar subluxations, and chronic widespread musculoskeletal pain. Examination shows mild skin hyperextensibility and easy bruising, but no widened atrophic scars, skin fragility, marfanoid habitus, ectopia lentis or synovitis. Her C-reactive protein is normal. Which diagnostic category should now be formally assessed?

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Correct answer: D — Hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder

The correct answer is D. A Beighton score of 7/9 demonstrates generalised joint hypermobility in this adult, while recurrent atraumatic subluxations, chronic musculoskeletal pain and mild cutaneous features warrant formal assessment for hEDS. hEDS is a clinical diagnosis requiring fulfilment of all 2017 criteria, including the necessary systemic, family-history or musculoskeletal features and exclusion of alternative diagnoses. If symptomatic hypermobility persists but the complete hEDS criteria are not met, the appropriate diagnosis is HSD. The absence of marked skin fragility, widened atrophic scars, vascular red flags and marfanoid or ocular features reduces concern for another EDS subtype or Marfan syndrome. Fibromyalgia may coexist but does not explain objective hypermobility and recurrent subluxation. Psoriatic and rheumatoid arthritis would require supportive inflammatory features, particularly synovitis; these are absent here.

Reference: Castori M, Tinkle B, Levy H, et al. A framework for the classification of joint hypermobility and related conditions. American Journal of Medical Genetics Part C. 2017;175:148–157. https://pubmed.ncbi.nlm.nih.gov/28145606/