S3457 Unusual Gastrointestinal Manifestation of Fabry Disease

Abstract

INTRODUCTION: Fabry’s disease (FD) is a rare lysosomal storage disease caused by an X-linked deficiency of α-galactosidase A, resulting in intracellular accumulation of glycolipids, globotriaosylceramide (Gb3) in various tissues. Primarily affecting the skin (angiokeratomas), kidney (proteinuria and renal failure), heart (cardiomyopathy and arrhythmias), nervous system (acroparaesthesia, and autonomic neuropathy). Gastrointestinal (GI) manifestations are common and include diarrhea, nausea, abdominal pain, early satiety, and diverticular disease typically attributed to enteric neuropathy and myopathy caused by the accumulation of (Gb3). CASE DESCRIPTION/METHODS: A 69-year-old male with a past medical history of FD on agalsidase-β bi-weekly infusion, chronic intermittent diarrhea, autonomic neuropathy, chronic kidney disease, and atrial fibrillation on Coumadin, presented with hematochezia, four hours from his presentation, associated with blood clots, lightheadedness, diaphoresis, and near syncope. At presentation, vitals were stable, the abdomen was soft and non-tender, digital rectal exam was remarkable for scant bright red blood, and guaiac positive stool. Routine laboratory testing was significant for 8.7 g/dl decreased from baseline 13 gm/dL, BUN 61 mg/dL, Creatinine 2.57 mg/dL, lactic acid 3.9 mg/dL, INR 3.8. Therapy initiated with oral vitamin K and fresh frozen plasma for reversal of Coumadin effect. With further bloody bowel movements, hemoglobin dropped to 6.8 gm/dL requiring blood transfusion. Tagged RBC scan was negative for active bleeding, esophagogastroduodenoscopy (EGD) showed mild non-bleeding erythematous antral gastropathy, colonoscopy revealed normal mucosa without a source of bleeding. In a few days hematochezia resolved, the patient tolerated oral intake, Coumadin was resumed, and the patient was discharged home with plans for virtual capsule endoscopy as an outpatient. DISCUSSION: Gastrointestinal bleeding is a rare manifestation of FD. Cutaneous angiokeratomas are vascular lesions caused by upper dermal vessels ectasia, affect 70% of FD patients. The absence of a clear source of GI bleeding in this case on EGD, increase the likelihood of mucosal angiokeratomas bleeding in the small intestine. Mucosal angiokeratomas have been reported as a cause of life-threatening GI bleeding, which can be found anywhere in the GI tract mucosa. Given the high likelihood of arrhythmias requiring anticoagulation in FD, physicians should be more vigilant of the possibility of severe GI bleeding.