An Introduction to EDS, HSD, and Gene Testing

In this video presentation, Drs. Brad Tinkle, Alan J. Hakim, and Clair A. Francomano provide an overview of the Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), and relevant genetic testing. Dr. Tinkle discusses the 2017 reclassification of EDS, focusing on the unification of diagnostic criteria and challenges in diagnosing hypermobility due to its variable presentation across age groups and ethnicities. Dr. Hakim then reviews the concept of hypermobility spectrum disorders, emphasizing musculoskeletal issues and other connective tissue manifestations which can have significant overlap with EDS, stressing the need to differentiate between hypermobility and syndromic features for proper management. Dr. Francomano elaborates on the types and significance of genetic testing for EDS, highlighting the challenges in identifying the genetic basis of hypermobile EDS due to the complexity and possible multigenic nature of the condition. The session concludes with a Q&A addressing common inquiries about EDS, such as diagnostic criteria, inheritance patterns, and associated comorbid conditions.