hEDS vs HSD: Controversies in Diagnosis with Alan Hakim, MD (Ep 110)

Bendy Bodies with Dr. Linda Bluestein

In this episode of the Bendy Bodies podcast, Dr. Linda Bluestein, the Hypermobility MD, welcomes Dr. Alan Hakim, a world-renowned rheumatologist and expert in Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorders (HSD). Dr. Hakim reveals for the first time something about his own health. Listen in to find out what Dr. Hakim really thinks about the Beighton Score and the 2017 hEDS Classification Criteria. He also shares when he feels genetic testing is indicated and how to interpret variants of uncertain significance (VUSs).

Takeaways:

Difference Between Connective Tissue Disorders: Dr. Hakim clarifies the difference between hereditary connective tissue disorders like EDS and autoimmune connective tissue disorders such as lupus and rheumatoid arthritis.

Evolving EDS Criteria: The 2017 classification of EDS has improved the understanding of conditions like hypermobile EDS, but there’s still ongoing research and work being done to refine the criteria. Dr. Hakim shares his thoughts on the criteria and the process.

Comorbidities in EDS and HSD: Conditions such as POTS (Postural Orthostatic Tachycardia Syndrome) and GI disorders often accompany hypermobility-related disorders, though more research is needed to establish how these comorbidities are connected.

The Importance of Instability: Joint instability, rather than just hypermobility, may play a more significant role in patient symptoms, making proper diagnosis and treatment plans essential.

Future of Genetic Testing: While genetic markers for hypermobile EDS have not yet been identified, significant research is underway to find biomarkers and better understand the genetic components of these disorders. Dr. Hakim shares his thoughts on when genetic testing should be performed and covers red flags for more rare types of EDS and other hereditary connective tissue disorders.

Connect with YOUR Bendy Specialist, Dr. Linda Bluestein, MD at https://www.hypermobilitymd.com/.

Thank YOU so much for tuning in. We hope you found this episode informative, inspiring, useful, validating, and enjoyable. Join us on the next episode for YOUR time to level up your knowledge about hypermobility disorders and the people who have them.

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