P6399 - An Intriguing Case of Hypermobile Ehlers-Danlos Syndrome Presenting With Severe Gut Dysmotility and Refractory Gastroparesis

Jason C. Truong, DO, MS¹, Amruth A. Alluri, BA²
1HCA Medical City Healthcare UNT-TCU GME (Arlington), Arlington, TX; 2American University of the Caribbean School of Medicine, Miami, FL

Introduction: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and systemic manifestations. Gastrointestinal (GI) involvement, including motility disorders, is increasingly reported but remains underrecognized and poorly understood. We present a complex case of hEDS associated with profound gut dysmotility and refractory gastroparesis, highlighting diagnostic and management challenges.

Case Description/

Methods: A 28-year-old female with a prior diagnosis of hEDS presented with progressive early satiety, nausea, vomiting, and weight loss over 18 months. Symptoms were refractory to dietary modifications and standard prokinetic agents. Physical exam revealed joint hypermobility (Beighton score 7/9) and soft, hyperextensible skin. Initial workup including upper endoscopy and abdominal CT were unremarkable. Gastric emptying scintigraphy demonstrated 68% retention at 4 hours, confirming severe gastroparesis. High-resolution antroduodenal manometry showed markedly reduced gastric contractility and uncoordinated small bowel peristalsis. Full-thickness biopsy via laparoscopic gastric pacemaker placement revealed fibrosis of the myenteric plexus with sparse ganglion cells.

Discussion: Despite trials of metoclopramide, erythromycin, domperidone, and prucalopride, the patient exhibited minimal clinical improvement. Gastric neurostimulator therapy resulted in partial symptom reduction (30% improvement in vomiting episodes), though nutritional compromise persisted, ultimately requiring jejunal feeding access. Genetic panel testing was negative for monogenic motility disorders. Multidisciplinary management including gastroenterology, rheumatology, and nutrition was essential for stabilization.

This case underscores the potential for severe, refractory GI dysmotility in hEDS, likely due to connective tissue laxity and neuropathic dysfunction of the enteric nervous system. Standard treatments may be insufficient in advanced cases. Early recognition, combined with integrative care, is critical. As awareness of hEDS-related GI dysfunction grows, more systematic investigation is needed to inform targeted therapies and long-term outcomes.

Disclosures:
Jason Truong indicated no relevant financial relationships.
Amruth Alluri indicated no relevant financial relationships.

Jason C. Truong, DO, MS¹, Amruth A. Alluri, BA². P6399 - An Intriguing Case of Hypermobile Ehlers-Danlos Syndrome Presenting With Severe Gut Dysmotility and Refractory Gastroparesis, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.