A Case of Gastrointestinal Amyloidosis Presenting Initially as Melena

Abstract

Amyloidosis is a condition in which abnormal protein folding leads to insoluble fibrillar protein deposition in extracellular tissues, resulting in diverse clinical manifestations. Herein we present a case of amyloidosis diagnosed in a patient whose first clinical symptom was that of gastrointestinal (GI) bleeding. An 86 year old female with hypothyroidism, atrial fibrillation, and chronic obstructive pulmonary disease, was admitted to an outside hospital with shortness of breath, and three months of melena. Laboratory results showed hemoglobin of 7.5 g/dL with baseline hemoglobin one-year prior of 12g/dL. Cardiac MRI there was suggestive of cardiac amyloidosis, and she was subsequently transferred to Westchester Medical Center for a right heart catheterization and biopsy. Repeat laboratory studies were consistent with iron deficiency anemia, and stool studies were positive for occult blood. She was also found to have elevated kappa and lambda free lights chains, with an elevated kappa/lambda ratio. Urine electrophoresis was notable for elevated total protein. Esophagogastroduodenoscopy (EGD) was performed and revealed innumerable fundic gland polyps, with otherwise normal gastric and duodenal mucosa. On colonoscopy, the terminal ileum was coated with black stool, though no source of gastrointestinal bleeding was found. There was a 2 cm lesion in the ascending colon-thought to be a lipoma, a 6 mm polyp in the transverse colon, and a diminutive recto-sigmoid polyp which were all either biopsied or removed. Random biopsies were taken in the rectum. On pathology, the duodenal biopsies, ascending colon ‘lipoma’, transverse colon polyp, and rectal biopsies were positive for amyloid. Clinical manifestations of gastrointestinal amyloidosis range from mild nausea to severe hemorrhage. Endoscopic findings are varied ranging from normal appearing mucosa to that of a fine granular appearance, with erosions, ulcerations or polypoid protrusions. Tissue biopsy is ideally taken from the duodenum or rectum and confirmed with positive Congo red staining or the presence of amyloid fibrils. Treatment should address symptoms and target the underlying disease; e.g., with chemotherapy in those with AL subtype and biologic therapy in those with AA amyloidosis. Heightened awareness that GI bleeding can be the first manifestation of amyloidosis along with timely endoscopic biopsies, will allow for earlier diagnosis and therapeutic treatment.2007_A Figure 1. Normal appearing duodenum, with biopsy positive for amyloid2007_B Figure 2. Ascending colon lipoma