2. Hypermobility: hEDS, HSD or a genetic diagnosis?
Clinicians with complex patients Planned episode, outlier patients in primary care. Telling the hypermobility disorders from the heritable connective tissue disorders that change management, using the 2017 international classification (Malfait 2017).
Listener title: Hypermobility in primary care: hEDS, HSD or a genetic diagnosis
Listener description: How to tell hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder from the heritable connective tissue disorders that change management, using the 2017 international classification. The guest covers what to check in a 30 to 40 minute visit, when to order genetic testing, and how to decide about vascular imaging. For primary care clinicians who see adults with joint hypermobility and systemic symptoms.
Run of show (about 40 minutes)
| Time | Segment | What happens |
|---|---|---|
| 0:00 to 2:00 | Opening | The host introduces the topic and the guest's role. The guest states any industry relationships, including any with testing laboratories. The host notes that no patient information is discussed and that the guest speaks for themselves, not for the network. |
| 2:00 to 6:00 | The terms | The guest explains in plain terms what the 2017 international classification (Malfait 2017) means by hypermobile EDS and by hypermobility spectrum disorder, and why the distinction matters to the patient in the room. The host asks what the classification changed in the guest's own practice. |
| 6:00 to 16:00 | The visit | In a 30 to 40 minute visit, what do you actually check? The host reads the visit-one exam list from the CCN connective tissue care map (Beighton score and the 2017 criteria documented item by item, skin, scars, arm span, palate, chest wall, postural vital signs, a three-generation pedigree) and asks the guest what they would keep, drop or reorder, and what they leave for a second visit. |
| 16:00 to 25:00 | Testing or a clinical diagnosis | What tips you toward genetic testing rather than a clinical diagnosis? The guest explains which features raise a differential (vascular, classical or other EDS types, Marfan syndrome, Loeys-Dietz syndrome, heritable aortic disease) and how they choose between a panel and genome sequencing. The host reads the figure the connective tissue page cites from Forghani 2025: in one registry of 907 patients referred for hEDS evaluation, 178 met the 2017 criteria, and genetic testing found an alternative or additional diagnosis with distinct management in 47 of them (26.4%). The guest says whether that matches their experience, and how they explain a negative panel to a patient. |
| 25:00 to 33:00 | Vascular imaging | How do you decide about vascular imaging? The guest explains who gets an echocardiogram with aortic root measurement and Z-score, who gets more, and when imaging can stop. The host asks how the guest uses the 2022 ACC/AHA aortic disease guideline (Isselbacher 2022) when a heritable aortic disease is in the differential, and what prompts them to test urgently for vascular EDS. |
| 33:00 to 37:00 | Composite scenario, not a real patient | An adult with generalized joint hypermobility, chronic pain, fatigue and easy bruising arrives with an hEDS label from another clinic and no record of how it was made; the family history is uncertain. The guest talks through what they would redo, what they would order, and what they would tell the patient at the end of the first visit. |
| 37:00 to 40:00 | Closing | Takeaway: document the 2017 criteria item by item, with the pedigree, so the next clinician can see how the diagnosis was reached. The connective tissue care map is at coloradocarenetwork.com/cohorts/connective-tissue/, and members continue the discussion in #cohort-connective-tissue. Listeners reach the network at coloradocarenetwork.com/join/ or hello@coloradocarenetwork.com. |
Guest prep questions (sent to the guest a week ahead)
- In a 30 to 40 minute first visit for an adult with joint hypermobility and systemic symptoms, what do you check, in what order, and what do you leave for a second visit?
- Which history or exam features move you from a clinical diagnosis toward genetic testing, and how do you choose between a connective tissue panel and genome sequencing?
- How do you explain to a patient what a negative panel does and does not mean for hypermobile EDS?
- How do you decide who needs an echocardiogram, who needs further vascular imaging, and when imaging can stop? Which guideline or guidelines do you rely on?
- Please read the connective tissue care map on the CCN site before recording and bring one change you would make to it. Please send any sources you plan to cite (PubMed, DOI, GeneReviews or guideline) before recording.
Show notes
The guest explains how to tell hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder from heritable connective tissue disorders that change management, using the 2017 international classification. The conversation covers what fits into a 30 to 40 minute visit, what tips the decision toward genetic testing, and how to decide about vascular imaging. A composite scenario, not a real patient, illustrates a first visit with an inherited label. The episode refers to the CCN connective tissue care map throughout.
- Sources:
- Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
- Forghani I, See J, McGonigle WC. Hypermobile Ehlers-Danlos syndrome: diagnostic challenges and the role of genetic testing. Genes (Basel). 2025;16(5). doi:10.3390/genes16050530
- Isselbacher EM, Preventza O, Hamilton Black J 3rd, et al. 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022;146(24):e334-e482. doi:10.1161/CIR.0000000000001106
- No patient information is discussed on this episode.
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