S3002 Dysphagia Leading to Endoscopic Diagnosis of Primary Amyloidosis

Abstract

INTRODUCTION: Amyloidosis is a rare disorder that is caused by the extracellular deposition of abnormal protein fibrils in organs and tissues. Gastrointestinal (GI) involvement in systemic amyloidosis is rare with a reported prevalence of about 3%. We report a case of a 66-year-old female with complaint of dysphagia diagnosed with primary (AL) amyloidosis based on esophagogastroduodenoscopy (EGD) and biopsy. CASE DESCRIPTION/METHODS: A 66-year-old woman with a past medical history of hypertension, diastolic heart failure, history of stroke, and gastroesophageal reflux presented with symptoms of dysphagia accompanied by dysgeusia, anorexia, and unintentional 20 lb weight loss. On physical examination, the patient exhibited mild epigastric tenderness. Laboratory results notable for alkaline phosphatase 440 IU/L, total bilirubin 1.4 mg/dL, hemoglobin 11.7 g/dL, and INR 1.2 with normal aspartate aminotransferase and alanine aminotransferase, and negative hepatitis serologies. The patient underwent EGD with multiple large non-bleeding angioectasias found in the stomach, which were treated with argon plasma coagulation (APC) prophylactically. Patchy, moderately erythematous mucosa without bleeding was found in the stomach and was biopsied. No gross endoscopic esophageal abnormality was found to explain the patient's dysphagia. Four biopsies were obtained in the proximal and distal esophagus. Random gastric biopsies stained with Congo red demonstrated amyloidosis involving oxyntic mucosa with mild chronic inactive gastritis. Distal esophageal biopsies stained with Congo red demonstrated deposits suspicious for amyloid. DISCUSSION: GI-related symptoms in AL amyloidosis is reported to be 8–60%. However, the prevalence of gastrointestinal amyloidosis with both symptoms and biopsy-proven involvement of tissue is about 3%. Common symptoms of GI amyloidosis include weight loss, diarrhea, abdominal pain, and varying degrees of bleeding. The above patient presented with dysphagia, which is a rarely reported symptom of GI amyloidosis. The gold standard for diagnosing amyloidosis is tissue biopsy with Congo red stain demonstrating green birefringence under polarized light. Both the esophageal and stomach tissue samples demonstrated amyloid deposition. The dysphagia experienced by the patient was likely due to neuromuscular infiltration causing dysmotility. This case demonstrates the unusual presentation of dysphagia leading to the diagnosis of AL amyloidosis with rare biopsy proven infiltration of the esophagus and stomach.Figure 1.: Stomach biopsy sample stained with Congo red demonstrating apple green birefringence under polarized light.Figure 2.: Esophagus biopsy sample stained with Congo red demonstrating apple green birefringence under polarized light.Figure 3.: Stomach biopsy sample stained with Congo red demonstrating congofilic deposits.