A Narrative Review of Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and Opportunities in Primary Care

Doris Pinto-Escalante; Martín Rodríguez-Alvarado; Silvina Contreras-Capetillo; Lizbeth González-Herrera; Rodrigo Rubi-Castellanos

Authors

Doris Pinto-Escalante Autonomus University of Yucatan https://orcid.org/0000-0002-5220-4246
Martín Rodríguez-Alvarado Instituto Politécnico Nacional https://orcid.org/0009-0008-9307-4223
Silvina Contreras-Capetillo Autonomous University of Yucatán https://orcid.org/0000-0003-3338-3813
Lizbeth González-Herrera Autonomous University of Yucatán https://orcid.org/0000-0002-8620-3954
Rodrigo Rubi-Castellanos Autonomus University of Yucatan https://orcid.org/0000-0002-5990-8326

Keywords:

Hypermobile Ehlers-Danlos syndrome, joint hypermobility, clinical diagnosis, autosomal dominant, primary care, connective tissue disorders, rare diseases, family medicine

Abstract

Hypermobile Ehlers-Danlos syndrome (hEDS), an autosomal dominant condition, is the most common subtype of hereditary connective tissue disorders. It represents a diagnostic challenge in primary care due to its variable phenotype, multisystemic involvement, and the absence of an associated gene. This narrative review aims to show the existing evidence for its clinical recognition, promote a multidisciplinary approach, and highlight its relevance in primary care to improve comprehensive management. Based on the diagnostic criteria established by an international consortium in 2017 and considering the lack of a specific management guideline, a review of the updated information on the clinical manifestations of hEDS was carried out. This analysis focused on identifying aspects that could facilitate early detection at the primary care level, including differential diagnoses and the diverse multisystemic presentations of of hEDS across the lifespan. The role of primary care physician in identifying these cases, as well as their multidisciplinary management and referral according to clinical manifestations, is emphasized. Early recognition of hEDS can reduce years of medical referrals and significantly improve patients’ quality of life.

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