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.

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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
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article

Unraveling the Complexity: A Multisystemic Case of Ehlers-Danlos Syndrome with Recurrent Joint Dislocations and Pregnancy Complications

Theresa Rohr-Kirchgraber, Michael J. Fowler, Yazmin Reategui Almonacid
1 links
Academic Medicine & Surgery
Connective tissue disorders research
article

Unraveling the Complexity: A Multisystemic Case of Ehlers-Danlos Syndrome with Recurrent Joint Dislocations and Pregnancy Complications

Theresa Rohr-Kirchgraber, Michael J. Fowler, Yazmin Reategui Almonacid
article en

Abstract

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.

Academic Medicine & Surgery
Cedars-Sinai Medical Center (US), Augusta University Health (US)
Openalex Percentile: Top 80%
Connective tissue disorders research
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