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Hypermobility Spectrum Disorder — SCE Rheumatology MCQ

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ModerateSoft Tissue RheumatologyHypermobility Spectrum DisorderSCE Rheumatology

A 30-year-old woman has a Beighton score of 8/9. She reports chronic multisite musculoskeletal pain, fatigue and recurrent atraumatic joint subluxations causing substantial functional impairment. These manifestations are clinically attributable to her joint hypermobility. She does not fulfil the 2017 diagnostic criteria for hypermobile Ehlers–Danlos syndrome, and assessment has excluded inflammatory, neuromuscular and other heritable connective-tissue disorders. What is the most appropriate diagnostic label?

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Correct answer: E — Generalised hypermobility spectrum disorder

The correct answer is **generalised hypermobility spectrum disorder (G-HSD)**. Her Beighton score demonstrates current generalised joint hypermobility, while chronic hypermobility-related musculoskeletal pain and recurrent atraumatic subluxations establish clinically significant secondary manifestations. Because she does not meet hEDS criteria and alternative acquired or heritable causes have been excluded, the HSD framework applies. Asymptomatic generalised joint hypermobility is inappropriate because she has substantial symptoms and disability. Peripheral HSD is confined predominantly to the hands and feet rather than generalised hypermobility. Fibromyalgia may coexist and can contribute to widespread pain, but it does not account for the hypermobility-related instability and should not replace the HSD diagnosis. hEDS cannot be diagnosed when its clinical criteria are not fulfilled.

Reference: Morlino S, Castori M. Placing joint hypermobility in context: traits, disorders and syndromes. British Medical Bulletin. 2023;147(1):90-107. https://pubmed.ncbi.nlm.nih.gov/28145606/