EDScriteria

EDScriteria refers to the diagnostic criteria used to identify the Ehlers-Danlos syndromes (EDS), a family of heritable connective tissue disorders. The criteria are designed to standardize diagnosis across clinical settings and to guide genetic testing where appropriate. The 2017 International Classification for EDS, published by an international consortium, provides the current core framework used in most clinics. Under this framework, EDS is divided into multiple subtypes, each with its own criteria set that combines clinical features, family history, and, when available, genetic testing results. For some subtypes (notably vascular and classical), distinct major criteria are described, while others (notably hypermobile EDS) rely heavily on clinical judgment.

A common element across many criteria is the assessment of joint hypermobility, frequently measured by the Beighton score, a 9-point assessment. Generalized joint hypermobility is a common feature, particularly in hypermobile EDS, but must be interpreted in the context of systemic involvement and family history. Genetic testing can confirm subtypes with known causative genes, such as COL5A1 or COL5A2 for classical EDS and COL3A1 for vascular EDS. In hypermobile EDS, no single causative gene has been identified to date, so diagnosis remains largely clinical and exclusion-based.

The criteria continually evolve with research and consensus, and clinicians may use additional systemic or organ-specific manifestations to support a diagnosis and to inform management and surveillance for complications.