Understanding Hypermobile EDS: Diagnosis and Genetic Insights

This chapter explores the current developments in hypermobile Ehlers-Danlos Syndrome (hEDS), focusing on refining classification criteria and the diagnosing process. The discussion addresses the importance of ruling out other conditions, the role of genetic testing, and the nuances of interpreting test results. Additionally, it highlights the emotional implications of genetic testing and the evolving landscape of hereditary connective tissue disorders.

Transcript

chevron_right

Play full episode

chevron_right

Transcript

Episode notes

In this episode of the Bendy Bodies podcast, Dr. Linda Bluestein, the Hypermobility MD, has an in-depth conversation with Dr. Clair Francomano, a leading expert on connective tissue disorders and Chair of the Medical and Scientific Advisory Board for the Ehlers-Danlos Society. Dr. Francomano shares her insights on diagnosing hypermobile Ehlers-Danlos Syndrome (hEDS) versus hypermobility spectrum disorders (HSD), the current state of genetic testing, and emerging biomarkers (are we close?) that could revolutionize hEDS diagnosis. She discusses the potential connections between EDS, mast cell activation syndrome (MCAS), and postural orthostatic tachycardia syndrome (POTS), offering advice for patients navigating this complex landscape. With updates from ongoing research, this episode is essential listening for those with EDS or related conditions.

Takeaways:

Differences Between hEDS and HSD: Dr. Francomano explains the nuanced distinctions between hypermobile EDS (hEDS) and hypermobility spectrum disorders (HSD), noting that these categories may overlap more than previously thought and might benefit from unified diagnostic criteria in the future.

Genetic Testing Red Flags: While genetic testing can be useful, Dr. Francomano highlights specific “red flags” in family history or personal health that should prompt a referral to a geneticist for further investigation.

Current Limitations of Genetic Testing for hEDS: Unlike other types of EDS, hEDS currently has no identified genetic markers, meaning diagnosis relies on clinical criteria rather than genetic testing alone.

Emerging Biomarkers Show Promise: New studies, such as those exploring fibronectin and calocrine, suggest potential biomarkers for hEDS and HSD, which could transform diagnosis and treatment in the future.

Holistic Approach to Comorbidities: Dr. Francomano discusses how hEDS often presents with comorbidities like POTS and mast cell activation syndrome, recommending a comprehensive, multidisciplinary approach to manage these interconnected symptoms effectively.

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.

Join YOUR Bendy Bodies community at https://www.bendybodiespodcast.com/.

Learn more about Human Content at http://www.human-content.com

Podcast Advertising/Business Inquiries: sales@human-content.com

YOUR bendy body is our highest priority!

Learn about Dr. Clair Francomano

Her Book: https://amzn.to/4e3eSaF

Instagram: @dr.clairfrancomano

Youtube: @DoctorClair

Red Flags List: https://www.bendybodiespodcast.com/p/redflags/

Keep up to date with the HypermobilityMD:

YouTube: youtube.com/@bendybodiespodcast

Twitter: twitter.com/BluesteinLinda