Hypermobility Spectrum Disorder (HSD) vs. Ehlers-Danlos Syndrome (EDS) - Diagnostic Criteria

Dr. David Saperstein explains how to distinguish Hypermobility Spectrum Disorder (HSD) from hypermobile Ehlers-Danlos syndrome (hEDS) using the 2017 hEDS criteria. hEDS remains a clinical diagnosis (no confirmed gene yet) requiring: 1) generalized joint hypermobility (age/sex-specific Beighton thresholds, with the 5‑part questionnaire to capture historical hypermobility), 2) at least two of three: systemic connective tissue features, positive family history, and/or musculoskeletal complications (e.g., chronic pain, recurrent dislocations), and 3) exclusion of other heritable/acquired connective tissue disorders (e.g., classical/vascular EDS, Marfan, Loeys‑Dietz) and alternative causes of hypermobility. HSD is diagnosed when symptomatic hypermobility causes problems (pain, instability, soft‑tissue injury) but full hEDS criteria are not met; subtypes include generalized, peripheral, localized, and historical HSD. Both are legitimate diagnoses with overlapping management: targeted physical therapy and stabilization, joint protection, pain and fatigue strategies, and attention to common comorbid symptoms (autonomic/GI/pelvic floor). Genetic testing is used to rule in other EDS subtypes or Marfan/LDS when red flags are present; hEDS/HSD are primarily clinical diagnoses best made by clinicians familiar with the criteria.