SHM Converge Scientific Abstract ePoster Gallery-Ehlers-Danlos Syndrome: a Forgotten Multisystem Disease

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This case highlights hypermobile Ehlers-Danlos syndrome (EDS), a common hereditary connective tissue disorder marked by joint hypermobility, skin changes, and sometimes cardiac, vascular, ophthalmic, dental, gastrointestinal, and autonomic complications. A 27-year-old woman with recurrent shoulder dislocations developed severe constipation, early satiety, nausea, vomiting, and major weight loss. Exam showed dehydration and abdominal tenderness. Her history and findings suggested hypermobile EDS with associated gastrointestinal dysmotility and possible postural orthostatic tachycardia syndrome (POTS).<br /><br />EDS includes 13 subtypes, with the hypermobile form being the most common. There is no cure, but diagnosis is important because it guides symptom management and referral to specialized care. In this patient, the diagnosis was supported by generalized joint hypermobility, soft/velvety and hyperextensible skin, unexplained striae, pelvic floor relaxation, and a possible family history of connective tissue problems in her brother.<br /><br />The International Criteria for hypermobile EDS require:  <br />1) generalized joint hypermobility by Beighton score and related history questions,  <br />2) additional features from family history, systemic manifestations, or musculoskeletal complications, and  <br />3) exclusion of other connective tissue disorders and unusual skin fragility.<br /><br />Her case demonstrates that hypermobile EDS can cause significant multisystem disease, especially gastrointestinal dysmotility, which may be severe enough to prolong hospitalization and may require prokinetic therapy in addition to laxatives and antiemetics. She was managed supportively and referred to an EDS specialty center for follow-up.

Asset Subtitle

Li-Kheng Ngov

Meta Tag

Author List Adam v. Meyer, Alice Curchin, Li-Kheng Ngov

Category Clinical Vignettes

Concept Hypermobile Ehlers-Danlos Syndrome

Concept Generalized Joint Hypermobility

Concept Beighton Score

Concept Recurrent Joint Dislocations

Concept Diagnostic Criteria

Distinguished Non-Finalist

Presenter Organization University of Colorado

Presenting Author Li-Kheng Ngov

Track Adult

Keywords

hypermobile Ehlers-Danlos syndrome

EDS

joint hypermobility

gastrointestinal dysmotility

constipation

postural orthostatic tachycardia syndrome

POTS

Beighton score

connective tissue disorder

prokinetic therapy

Hypermobile Ehlers-Danlos Syndrome

Generalized Joint Hypermobility

Beighton Score

Recurrent Joint Dislocations

Diagnostic Criteria