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A Rare Case of Heterozygous C282Y Mutation Causing Hereditary Hemochromatosis With Acute Pancreatitis
Roger F Tonna1, Rakahn Haddadin1, Humzah Iqbal2
1Internal Medicine, MountainView Hospital, Las Vegas, USA.
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.
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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