Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome

Yun-Ting Wang; Shiva Jahani; Dayna Morel-Swols; Angelica Kapely; Ami Rosen; Irman Forghani

doi:10.1002/ajmg.a.63613

Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome

Am J Med Genet A. 2024 Mar 28:e63613. doi: 10.1002/ajmg.a.63613. Online ahead of print.

Authors

Yun-Ting Wang¹, Shiva Jahani², Dayna Morel-Swols³, Angelica Kapely³, Ami Rosen¹, Irman Forghani^{3

4}

Affiliations

¹ Department of Human Genetics, School of Medicine, Emory University, Atlanta, Georgia, USA.
² Department of learning sciences and educational Research, University of Central Florida, Orlando, Florida, USA.
³ Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
⁴ Department of Oncology, Division of Clinical Genetics, Mount Sinai Medical Center at Florida, Miami, Florida, USA.

PMID: 38545882
DOI: 10.1002/ajmg.a.63613

Abstract

Hypermobile Ehlers-Danlos syndrome (hEDS) presents with a wide range of clinical symptoms and comorbidities that impact quality of life. The diagnosis is challenging and often delayed due to the heterogeneity of the disease and lack of diagnostic biomarkers, which adds to the disease burden by affecting patients' psychosocial adaptation and overall well-being. Previous studies have revealed that healthcare professionals and the public have a limited understanding and familiarity with the condition, which leads to disapproval and skepticism that greatly impact patients' social spheres and welfare. While physical manifestations have been widely discussed, the psychosocial impact and the importance of receiving a diagnosis have not been fully studied in the current literature. This survey study investigated the impact of diagnosis in hEDS patients, selected from the University of Miami's hEDS registry. Survey questions were formulated based on clinical expertise and literature review. Descriptive statistics, Mann-Whitney test, and Spearman's correlation were used for data analysis. The median age at symptom presentation was 10 years, with a median gap of 4 years before the initial medical evaluation. On average, it took 10 years to receive a diagnosis of hEDS. Nearly all participants (95.2%) expressed receiving a diagnosis as "important" or "highly important," with 81.9% agreeing that it helped them cope with their condition better, 76.8% could better manage their symptoms, and felt more in control of their long-term care. Participants mostly had a positive emotional reaction and experienced an improvement in the support they were receiving from their caregivers and healthcare providers after receiving a diagnosis of hEDS. This study demonstrates that receiving a diagnosis could positively impact the patient's support, quality of care, and overall well-being.

Keywords: diagnostic impact; emotional impact; hypermobile Ehlers–Danlos syndrome (hEDS); lived experience; psychosocial impact.