Author ORCID Identifier
Date of Graduation
Masters of Science (MS)
Kathryn Leal, MS, CGC
Caitlin Mauer, MA, MS, CGC
Paul Hillman, MD, PhD
Leslie Dunnington, MS, CGC
Gretchen MacCarrick, MS, CGC
Background: Ehlers-Danlos syndrome (EDS) is a highly variable, heritable connective tissue disorder. Hypermobile EDS (hEDS) is the most common subtype of EDS and has no identifiable underlying genetic etiology. Patients with clinical features of hEDS face a long diagnostic odyssey due to lack of genetic testing and wide clinical heterogeneity. Additionally, recent research has shown that genetic institutions limit evaluations for suspected hEDS, adding another barrier to care.
Methods: We developed an online patient survey to explore the diagnostic odyssey of hEDS for those who were diagnosed with or suspicious for hEDS. This survey included sections on demographics, diagnostic information including self-reported diagnosis of hEDS, overall medical dignity, comparison between personal expectations, hopes, and outcomes of an initial diagnostic appointment, and what patients recalled occurring in their initial diagnostic appointment.
Results: Demographics of the 497 respondents were consistent with previous hEDS studies, being predominantly well-educated, white females. On average, respondents felt they had little control over their condition and life. Almost all respondents described having comorbidities and all described at least one barrier to care. Geneticists were the most likely provider to diagnose (38.4%), but not the most likely to provide thorough information. A little over half of respondents had genetic testing (56%), although it is within the revised 2017 diagnostic criteria. With regards to aspects of an appointment, respondents hoped for all elements of an appointment, but they did not expect them or have them occur. When participants' appointment expectations were met, there were correlations with all aspects of medical dignity queried in this study except for how participants managed their condition.
Conclusion: The hEDS population is medially complex due to multiple comorbidities, barriers to access for diagnosis, and the lack of available genetic testing. These factors all contribute to the lack of medical dignity the population is experiencing. To increase medical dignity and patient satisfaction in this patient population, providers could implement suggestions for an ideal diagnostic appointment, including examining hEDS patients for both physical symptoms and psychological concerns, having familiarity with the diagnostic criteria, and establishing providers or clinics and referral networks for diagnosis and care management.
hEDS, Psychosocial, Diagnosis, Genetic, Expectations, Diagnostic Appointment, Chronic Illness
Available for download on Saturday, April 12, 2025