1363 A Rare Case of Heterozygous Hemochromatosis Presenting as Recurrent Pancreatitis

Abstract

INTRODUCTION: Hemochromatosis induced pancreatitis is a relatively rare cause of acute pancreatitis that may complicate further into chronic or recurrent pancreatitis. However, heterozygous hemochromatosis is an exceptionally rare cause of overt disease with only a few cases reported to date. Herein we describe a case of heterozygous hemochromatosis solely presenting as recurrent pancreatitis. CASE DESCRIPTION/METHODS: A 32-year-old female patient with a past medical history of hypertension presented to our emergency department with epigastric pain of one-day duration. Her only medications were labetalol 300 mg and lorazepam 0.5 mg with reported alcohol use of two glasses of wine up to two to three times a week. On arrival, blood pressure was 177/116 mmHg. All vital signs were otherwise within normal limits. Physical examination was significant for mild epigastric and left upper quadrant tenderness. Initial laboratory workup was remarkable for elevated AST at 197 U/L, ALT of 63 U/L, alkaline phosphatase 124 U/L, and total Bilirubin 1.5 µmol/L. Lipase was within normal limits at 69 U/L. Urine toxicology screen was negative. IgG-4 level was within normal limits as well as triglycerides at 67 mg/dL. Magnetic resonance imaging of the abdomen (Figure 1) showed mild hepatomegaly and hepatic steatosis. The pancreas and gallbladder showed no acute changes. Hepatobiliary iminodiacetic acid (HIDA) scan showed a decreased ejection fraction at 6% (Figure 2). Magnetic resonance cholangiopancreatography (Figure 3) showed signs of chronic pancreatitis and a dilated pancreatic duct proximally. Signal characteristics in the spleen and marrow compartment suggested iron deposition leading to a more thorough investigation for hemochromatosis and hence transferrin saturation level returned elevated at 86% and ferritin at 800. She tested heterozygous for the C282Y mutation. The patient was managed conservatively and discharged home with plans for initiation of phlebotomy. The patient's transferrin saturation and ferritin normalized and reported no recurrent episodes of pancreatitis on follow up at 7 months. DISCUSSION: Hemochromatosis is a condition of iron overload and deposition leading to various organ dysfunction. On that spectrum, pancreatitis is considered an extremely rare manifestation, never mention, the sole presenting manifestation of this disease. Clinicians should be cognizant of the variety of medical conditions that can cause pancreatitis and investigate them when clinically indicated.