Is It Time to Retire the Term "EDS"?

EDS (Ehlers Danlos syndromes) is not a diagnosis.

It is a category covering 13 genetically distinct conditions. In clinical practice, it often functions as a catch-all, applied by providers who may not know the subtypes, and held onto by patients who spent years being dismissed before getting any diagnosis at all. But an imprecise label has clinical consequences.

These 13 subtypes are not interchangeable. Vascular EDS is caused by pathogenic variants in COL3A1 and carries serious implications for vascular integrity, pregnancy, and surgical risk. Hypermobile EDS, the most common subtype, has no confirmed genetic marker yet but shares some of the joint and skin features of other subtypes. Calling them all "EDS" is a bit like documenting "cancer" without specifying type. Many providers conflate EDS with hEDS specifically, which can have significant implications for genetic testing and clinical follow up.

The term "Ehlers-Danlos syndrome" was coined in 1936 by Frederick Parkes Weber, named after Danish dermatologist Edvard Ehlers and French dermatologist Henri-Alexandre Danlos, who had each described the condition in the early 1900s. The name predates modern genetics entirely. The 13 subtypes accumulated over decades, and the classification has been revised three times in forty years: 11 types under the 1986 Berlin nosology, collapsed to 6 under the 1997 Villefranche nosology, then expanded to 13 in 2017. That is not the track record of a stable diagnostic category.

The features most commonly attributed to EDS (joint hypermobility, skin hyperextensibility, and tissue fragility) are not exclusive to EDS. They are features of connective tissue disorders broadly. Marfan syndrome, Loeys-Dietz syndrome, and other heritable connective tissue disorders share significant overlap with EDS subtypes. Providers who start with EDS as a working diagnosis often don't look beyond it.

That label may also shape testing decisions. An EDS-specific genetic testing panel may be too narrow for patients presenting with broader connective tissue concerns. Unfortunately, many insurance companies will only pay for genetic testing once. If a provider orders an EDS panel, that might be the end of that patient's testing journey, even if a comprehensive connective tissue disorder panel would have been more appropriate and potentially diagnostic.

The term heritable connective tissue disorder, or HCTD, is already well established. It describes a group of conditions with shared structural biology affecting connective tissue across multiple organ systems. Under that umbrella, all 13 EDS subtypes fit, as do Marfan syndrome, Loeys-Dietz, and others. Using HCTD as the umbrella makes it harder to conflate subtypes and harder to miss conditions that don't carry the EDS name but belong in the same clinical conversation.

Patients who spend years fighting for a diagnosis may not welcome a conversation about changing the label. But a specific, accurate diagnosis that actually matches their clinical features serves them better in the long run. It gives providers clearer guidance, reduces the risk of missed surveillance, and contributes to a broader clinical understanding of connective tissue disorders across the HCTD spectrum.

New hEDS diagnostic criteria are expected by late 2026. The field is already in a moment of revision. That seems like the right time to ask whether the broader nomenclature is still serving patients and providers, or whether it has outlived its usefulness.

Learn more or get evaluated

New to this? Start with the guide to the types of Ehlers-Danlos syndromes or check out this blog post on hEDS vs HSD.

If you are wondering whether hEDS or HSD could explain your symptoms book an evaluation here.

Sources

Parapia, L. A., & Jackson, C. (2008). Ehlers-Danlos syndrome: A historical review. British Journal of Haematology, 141(1), 32–35. https://pubmed.ncbi.nlm.nih.gov/18324963/

Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., & Wenstrup, R. J. (1998). Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. American Journal of Medical Genetics, 77(1), 31–37. https://doi.org/10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., Colombi, M., et al. (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 8–26. https://doi.org/10.1002/ajmg.c.31552