Research Updates: EDS Clinic Published

It has been a while since we shared news from our research arm of The EDS Clinic, but we have been actively researching. Since our last update, we have had two successfully peer-reviewed articles published in academic journals:

Knight DRT, Confiado SM, Bruno KA, Fairweather D, Seymour-Sonnier AM, Jain A; Gehin JM, RN, Culberson JH, Munipalli B, Dawson NL, Rozen TD, Wick JJ, Kotha A (2022). Establishing an Ehlers-Danlos syndrome clinic: lessons learned. SN Comprehensive Clinical Medicine. https://link.springer.com/article/10.1007/s42399-022-01218-w

Knight DRT, Bruno KA, Gehin JM, Lothman KA, Leschitz J, Lazo AL, Mejia L, Motherwell LS, Seymour-Sonnier AM, Dawson NL, Fairweather D (2022). The impact of a group telemedicine program for chronic disease: A retrospective cohort survey study on hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder. Telemed J E Health.

Today, we summarize our findings from the first study about establishing the EDS Clinic. In this paper we describe the process of starting the Clinic, the steps we took along the way, and some early lessons that we have learned. By sharing the structure and process that went into establishing the EDS Clinic, we hope to assist other clinicians in developing EDS Clinics of their own, so that they can also help patients with EDS/HSD. The first part of the article summarizes the current understanding of EDS and highlights the gap in care for patients with hEDS/HSD, which is why we established our practice in the first place. We then go on to describe features of the clinic – the unique connection we have with research, which is also greatly lacking for hEDS/HSD patients. We describe in the article how we are learning from patients and providing patient eduction (in both directions between providers and patients, and vice versa), and even this website is an avenue to keep our patients informed of the latest advances. Workflow and referrals are outlined in graphic representation, and several of our patient’s own perspectives are shared. In this publication we reported data on 563 patients from the EDS Clinic, 91.9% were female. There were 503 patients who completed an extensive intake questionnaire that helps with clinical management and research. Based on data from the questionnaire, of the 483 patients who had genetic testing, 338 had no findings of gene variants (70%), 136 had a variant of unknown significance (VUS) or an inconclusive result (28.1%) and 9 patients had a pathogenic or likely pathogenic variant (1.9%). Finally, we provided a summary of the lessons learned on all aspects of care from genetic testing (who needs it), pre-visit planning – especially important for the many patients who travel long distances to our clinic, care models, clinical team structure, and virtual visits / telemedicine. So much has been learned through our practice already, and so much more to come. Do you have any areas of research you are interested in learning more about?

Stay tuned here for the next research post where we summarize the second publication on group telemedicine.

Authors: Dacre Knight, MD, MS; DeLisa Fairweather, PhD; Katelyn Bruno, PhD