2025/07/19 by Yazmin Reategui Almonacid, Michael J. Fowler, Theresa Rohr-Kirchgraber · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Cardiovascular Issues in Pregnancy #Connective tissue disorders research #Dermatological and Skeletal Disorders
paper · pdf · doi:10.62186/001c.142359
openalex publication_date 2025/07/19 · openalex created_date 2025/10/10 · openalex updated_date 2026/06/11
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.