Rubela Ray, MD1, Kristina Patel, MD2, Darshankumar Raval, MD3 1University of Wyoming, Cheyenne, WY; 2University of Arkansas, Texarkana, AR; 3Elmhurst Hospital Center / Icahn School of Medicine at Mount Sinai, Youngstown, OH Introduction: Gastrointestinal (GI) amyloidosis is a rare infiltrative disease characterized by extracellular deposition of amyloid fibrils. Its nonspecific symptoms often mimic functional GI disorders, leading to delayed or missed diagnoses. This case highlights the importance of maintaining diagnostic curiosity in the face of unexplained and progressive GI symptoms.
Case Description/
Methods: A 61-year-old woman with hypertension and hypothyroidism presented with six months of persistent postprandial fullness, nausea, and early satiety. She lost 15 pounds unintentionally but denied vomiting, diarrhea, or bleeding. Her primary care physician and initial GI consults attributed symptoms to functional dyspepsia. Treatment with PPIs, dietary changes, and prokinetics yielded no benefit.
As symptoms progressed, she developed leg swelling, bloating, and fatigue. Exam revealed mild ascites and pitting edema. Repeat labs showed hypoalbuminemia (2.1 g/dL), normocytic anemia, and mildly elevated liver enzymes. Elevated fecal alpha-1 antitrypsin suggested protein-losing enteropathy. Imaging revealed small bowel thickening and mesenteric lymphadenopathy. A second endoscopy showed duodenal mucosal granularity; biopsies were obtained.
Histology showed lamina propria expansion with eosinophilic material positive for Congo red and apple-green birefringence—diagnostic of amyloidosis. Serum and urine immunofixation revealed monoclonal lambda light chain. Bone marrow biopsy confirmed AL amyloidosis with 15% plasma cells. Cardiac MRI showed early amyloid infiltration.
She was referred to hematology and started on cyclophosphamide, bortezomib, and dexamethasone. With nutritional support, her GI symptoms and albumin levels improved. Discussion: This case highlights how GI amyloidosis can mimic benign dyspepsia, especially when early endoscopic and imaging findings are subtle or nonspecific. Anchoring bias toward functional diagnoses delayed recognition, as neither amyloidosis nor infiltrative disease was initially considered. In AL amyloidosis, the GI tract may be an early site of involvement but is rarely suspected. Protein-losing enteropathy and refractory symptoms should prompt reassessment and consideration of biopsy—even when endoscopic findings are minimal.
Conclusion: In patients with unexplained GI symptoms and systemic signs like hypoalbuminemia and weight loss, clinicians should broaden the differential to include rare infiltrative disorders such as GI amyloidosis to avoid diagnostic delay and irreversible damage.
Disclosures: Rubela Ray indicated no relevant financial relationships. Kristina Patel indicated no relevant financial relationships. Darshankumar Raval indicated no relevant financial relationships.
Rubela Ray, MD1, Kristina Patel, MD2, Darshankumar Raval, MD3. P6283 - The Slow Fade: A Diagnostic Odyssey of Gastrointestinal Amyloidosis Presenting as Refractory Dyspepsia and Edema, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.
