Date of Award
Spring 2026
Document Type
Open Access Thesis
Department
Genetic Counseling
First Advisor
Debera Zvejnieks
Abstract
Hypermobile Ehlers-Danlos syndrome (hEDS) is the only form of Ehlers-Danlos syndrome (EDS) without a known genetic etiology. One of the criteria for diagnosing hEDS is the exclusion of other possible causes. This often leads to referrals for a clinical diagnosis with a medical geneticist or genetic testing for other forms of EDS. This study aimed to investigate the education that individuals diagnosed with or suspected to have hEDS are receiving and what genetic providers include in their appointments with these patients. This study included two original online surveys. The first was sent to patients through providers at Indiana University and Mayo Clinic Rochester. The second was sent to genetic providers through Indiana University, Mayo Clinic Rochester, and the National Society of Genetic Counselors listserv. A total of 35 responses were analyzed for the patient survey. A total of 22 responses were analyzed for the provider survey. Responses were analyzed using a combination of Fisher's and ANOVA tests to investigate differences among clinics, patients, and providers. Patients reported that they received education more often than providers reported discussing it with patients. Specifically, regarding discussion of hEDS, types of EDS, and inheritance (p = 0.003, p = 0.016, p = 0.04, respectively). Additionally, a majority of patient participants were diagnosed by a medical geneticist and felt that they were extremely knowledgeable about hEDS. Genetic counselors cannot provide a physical exam and therefore diagnose hEDS themselves. We thought that this might deter patients from genetic counseling, but most patients knew this or reported that they would still want to see a genetic counselor. Patients overall were satisfied with the education they received from providers, and felt genetics was helpful to their health journey. This raises the question of the utility of genetic testing to rule out other forms of EDS for hypermobility patients.
Rights
© 2026, Rylan Makenzie Sweitzer
Recommended Citation
Sweitzer, R. M.(2026). Patient-Centered Insights Into the Triage and Diagnostic Experience Of Hypermobile Ehlers-Danlos Syndrome in Clinical Genetics Services.. (Master's thesis). Retrieved from https://scholarcommons.sc.edu/etd/8783