How can I differentiate between joint hypermobility syndrome and Ehlers-Danlos syndrome in my patients?

To differentiate between joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome hypermobility type (EDS-HT) in patients, clinicians should focus on clinical features, diagnostic criteria, and associated systemic manifestations.

Both conditions share generalized joint hypermobility and musculoskeletal symptoms, but EDS-HT is considered a heritable connective tissue disorder with additional systemic features such as skin hyperextensibility, tissue fragility, and a family history consistent with autosomal dominant inheritance, whereas JHS is primarily a diagnosis of exclusion characterized by symptomatic joint hypermobility without the broader connective tissue involvement ¹.

Diagnostic differentiation relies on established criteria: the Brighton criteria are commonly used for JHS, emphasizing musculoskeletal symptoms and joint laxity, while the 2017 international classification for EDS includes major and minor criteria focusing on skin, vascular, and other systemic signs alongside hypermobility (Castori, 2013; Colombi et al., 2015).

In practice, if a patient presents with joint hypermobility plus chronic pain but lacks significant skin or systemic features, JHS is more likely; conversely, if hypermobility coexists with skin hyperextensibility, easy bruising, or family history of connective tissue disorder, EDS-HT should be suspected (Castori and Hakim, 2017).

Genetic testing currently has limited utility in hypermobility type EDS due to the absence of a definitive molecular marker, so clinical assessment remains paramount ¹. A diagnostic flowchart approach integrating clinical features and exclusion of other heritable connective tissue disorders is recommended to improve accuracy (Colombi et al., 2015).