S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis

Abstract

INTRODUCTION: Hereditary hemochromatosis is a common genetic disorder that often goes undiagnosed if there are no apparent signs of iron overload. We discuss a patient who appeared to be a simple case of diverticulosis causing GI bleeding. However focusing on a detailed history and physical examination led us to diagnosing hereditary hemochromatosis. CASE DESCRIPTION/METHODS: A 53 year old male presented with bright red blood per rectum for 2 days. On further questioning, he endorsed being depressed with joint pain, impotency and hair loss. He denied alcohol abuse. The patient had multiple brown macules scattered over his body with an overall bronze complexion. Abdominal examination was significant for hepatosplenomegaly. Rectal exam revealed minimal blood. Laboratory tests revealed hemoglobin of 11.2 g/dl and platelets of 155,000. He had mild transaminitis, glucose 300 with hemoglobin A1c was 9%. CT scan revealed an enlarged liver and diverticulosis. Patient had a colonoscopy which revealed diverticulosis. The patients bleeding had stopped. While in the hospital, putting together his myriad signs and symptoms including depression, arthropathy, impotence, decreased libido, hair loss, fatigue, bronze skin complexion, hyperglycemia and hepatosplenomegaly with mild transaminitis, we decided to do additional diagnostic testing. Iron saturation was 65% and ferritin of 1025. HFE gene testing which was positive for homozygous C282Y mutation. Patient was diagnosed with hereditary hemochromatosis. He had marked improvement in his iron studies and symptoms with phlebotomies. He followed with gastroenterology and did not develop liver cirrhosis. DISCUSSION: Hereditary Hemochromatosis (HH) is an autosomal recessive disease most commonly caused by HFE gene mutation, prominently C282Y and H63D. Mutations lead to increased intestinal iron absorption in the setting of decreased hepcidin. Hepcidin, a circulating peptide produced by the liver, is an iron regulator. Patients should undergo phlebotomies to reach a target ferritin level of 50-100 micrograms/liter. Reduction in most signs and symptoms can be achieved with treatment and improved survival if diagnosis is made and treatment started before development of cirrhosis and diabetes. Hepatocellular carcinoma (HCC) was previously a common manifestation of HH but due to early diagnosis, this risk has sublimed. HH patients with cirrhosis should be screened regularly for HCC as per AASLD guidelines. Our case illustrates the importance of history and physical examination.