How can I differentiate between joint hypermobility syndrome and other connective tissue disorders in my patients?

To differentiate joint hypermobility syndrome (JHS) from other connective tissue disorders (CTDs), a detailed clinical assessment focusing on the pattern of joint hypermobility, associated systemic features, and family history is essential. JHS, also known as hypermobile Ehlers-Danlos syndrome (hEDS), primarily presents with generalized joint hypermobility confirmed by the Beighton score, musculoskeletal symptoms such as joint pain and instability, and absence of significant skin fragility or major organ involvement ¹ (Castori, 2013). In contrast, other CTDs like classical or vascular Ehlers-Danlos syndromes, Marfan syndrome, or Loeys-Dietz syndrome often exhibit additional systemic manifestations including skin hyperextensibility, easy bruising, characteristic facial features, cardiovascular abnormalities, or ocular involvement (Colombi et al., 2015).

Key differentiating features include:

• Skin involvement: JHS typically lacks the marked skin fragility, atrophic scarring, or severe skin hyperextensibility seen in classical or vascular EDS (Colombi et al., 2015) ¹.
• Systemic features: Presence of cardiovascular complications (e.g., aortic root dilation), ocular lens dislocation, or skeletal abnormalities suggests alternative CTDs rather than isolated JHS (Colombi et al., 2015) ¹.
• Family history and genetic testing: While JHS is often familial, genetic testing is more informative for other CTDs with known mutations (e.g., COL3A1 in vascular EDS, FBN1 in Marfan syndrome) (Castori, 2013).
• Diagnostic criteria and flowcharts: Using established diagnostic criteria such as the 2017 hEDS criteria and differential diagnostic flowcharts can aid in distinguishing JHS from other CTDs by systematically evaluating clinical features and excluding other diagnoses (Colombi et al., 2015) ¹.

In summary, differentiation relies on a comprehensive clinical evaluation emphasizing the extent and nature of joint hypermobility, presence or absence of systemic features, and targeted use of genetic testing where appropriate. This approach aligns with UK clinical guidance on musculoskeletal presentations and is supported by detailed literature critiques and diagnostic algorithms (Castori, 2013; Colombi et al., 2015) ¹.