A Rare Case of Heterozygous C282Y Mutation Causing Hereditary Hemochromatosis With Acute Pancreatitis


Far West


MountainView Hospital

Document Type

Case Report

Publication Date



acute pancreatitis, autosomal recessive genetic disorder, c282y and h63d mutations, hereditary hemochromatosis; heterozygous hemochromatosis; heterozygous hfe gene mutation, primary iron overload, rare cause of acute abdominal pain


Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Internal Medicine | Medicine and Health Sciences


Hereditary hemochromatosis (HH) is the most common autosomal recessive genetic disorder globally for Caucasians. HH is known as an iron metabolism disorder where there is an increase in iron absorption in the body. HH is not localized but a systemic disease; the manifestations of HH include cirrhosis, diabetes mellitus, cardiomyopathy, and pancreatitis. This case is about a 53-year-old female with a past medical history of heterozygous hereditary hemochromatosis who presents to the emergency department with abdominal pain, nausea, and vomiting and was found to have acute pancreatitis. This case report helps signify the importance of identifying and treating symptomatic heterozygous carriers of the HH gene mutation.

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