Abstract

INTRODUCTION: Amyloidosis is a heterogenous disease, characterized by the extracellular deposition of an abnormal fibrillar protein, which disrupts tissue structure and function. Gastrointestinal involvement in amyloidosis is a rare entity that can result from mucosal and neuromuscular infiltration, or extrinsic autonomic neuropathy. Diagnosis is difficult as significant variation can exist within an individual type of amyloid and visceral involvement is rarely on a clinicians differential diagnosis. We present a case of gastrointestinal amyloidosis in a 62 year old Male who presented with nausea and vomiting. CASE DESCRIPTION/METHODS: 62 year old Male with a past medical history significant for tobacco use presented to the Emergency Department (ED) with a chief complaint of nausea and non bloody-non bilious emesis of three weeks duration. He reported early satiety, abdominal bloating, and unintentional 40 pound weight loss over one year. Several days prior to his presentation, he developed bilateral lower extremity edema. He denied any nausea, hematemesis, dysphagia, abdominal pain, melena or hematochezia and never had a previous upper or lower endoscopy. On presentation to the ED, his vitals were stable. He was ill appearing with temporal wasting and his abdomen was soft, nontender, without hepatosplenomegaly. Laboratory data was notable for a Hemoglobin 9.8 (MCV 78), Albumin 1.7, and a positive fecal occult test. Gastroenterology was consulted and the patient underwent an upper endoscopy given red-flag symptoms. His endoscopy revealed an edematous GE junction, severe diffuse gastric erythema with erosions, congested and friable gastric body folds, deformed duodenal bulb and edematous second portion of duodenum suspicious for extrinsic compression. Endoscopic biopsies were obtained using cold forceps. Small bowel biopsies detected amyloid deposits supporting a diagnosis of AL (lambda)- type amyloid deposition. He was referred to Hematology/Oncology and was subsequently started on standard triple therapy including lenaolidmide, bortezemib, and prednisone. DISCUSSION: Biopsy proven amyloidosis of the gastrointestinal tract is rare. Because presentation is insidious, with multiple vague symptoms, the possibility of systemic amyloidosis is often overlooked, resulting in substantial delays in diagnosis. A high index of suspicion is therefore required. Staining for amyloidosis should be considered in patients undergoing gastrointestinal biopsy who have unexplained chronic gastrointestinal symptoms.

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