Diagnosis and classification
How EDS is diagnosed: the Beighton score, the three-part 2017 hEDS criteria, genetic confirmation of the other types, and why older studies used different criteria.
The 2017 hEDS diagnosis requires all three sets of criteria
findingevidence: establishedone underlying sourcehEDS diagnosis under the 2017 International Classification requires (1) generalized joint hypermobility by Beighton score, (2) at least two of three feature groups: systemic manifestations, a positive family history, and musculoskeletal complications, and (3) exclusion of other connective-tissue disorders. Unlike every other subtype, hEDS has no molecular confirmation test.
Under the 2017 classification, definitive diagnosis of every subtype except hEDS relies on identifying a causative genetic variant. hEDS is diagnosed from clinical criteria.
The 2017 framework (Castori et al.) separated symptomatic joint hypermobility into hEDS when the strict criteria are met and HSD when they are not. The boundary is contested. The criteria were designed to define a more uniform group for research, not to declare HSD benign.
Villefranche-era “EDS type III” cohorts (1997–2017) do not map cleanly onto 2017 hEDS. The 2017 criteria are stricter, and some people who met the older hypermobility-type criteria would now be diagnosed with HSD. Studies that mix eras need to be read with that in mind.
hEDS diagnosis remains clinical despite the KLK15 finding
findingevidence: establishedindependent evidence agreesThe Ehlers-Danlos Society says kallikrein (KLK) genes are not on EDS genetic testing panels and that hEDS remains a clinical diagnosis, and that further studies, including the HEDGE study, are needed to replicate the KLK15 finding. The KLK15 authors say their study does not propose a diagnostic framework and that the absence of KLK15 variants should not rule out a clinical diagnosis.