Unraveling the Complexity: A Multisystemic Case of Ehlers-Danlos Syndrome with Recurrent Joint Dislocations and Pregnancy Complications
Hypermobile Ehlers–Danlos syndrome (hEDS) is a clinically diagnosed connective tissue disorder that often eludes timely recognition, especially in underrepresented populations. We present the case of a 28-year-old African American woman with a decade-long history of multisystem symptoms, including recurrent joint dislocations, gastrointestinal dysmotility, and obstetric complications, who was ultimately diagnosed using the 2017 hEDS criteria. Her constellation of findings, including dual enteral access and four unexplained pregnancy losses, represents a severe and underreported phenotype of hEDS. Despite numerous specialist evaluations, her diagnosis was delayed approximately 12 years. We outlined her multidisciplinary management plan and discuss how anchoring bias and structural inequities contributed to diagnostic delay. This case emphasizes the need for clinicians to maintain a high index of suspicion and apply standardized diagnostic criteria, even in the absence of cutaneous signs. Early recognition and coordinated care can significantly improve outcomes in marginalized patients with complex presentations.
Authors
- Theresa Rohr-Kirchgraber
- Michael J. Fowler
- Yazmin Reategui Almonacid
Institutions
- Cedars-Sinai Medical Center (US)
- Augusta University Health (US)
Publication Details
- Journal
- Academic Medicine & Surgery
- Published
- 2025-07-19
- DOI
- https://doi.org/10.62186/001c.142359
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00