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

Abstract

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.

Hemochromatosis—How Not to Overlook and Properly Manage “Iron People”—A Review

“…Nevertheless, excessive iron accumulation and its related complications can develop in this subgroup of individuals. Anecdotal reports present cases of heterozygous HC and illustrate that they should be managed with caution, with close monitoring to prevent possible consequences of iron overload [30,31]. However, they should not be regarded as a general rule considering the redundant diagnostic investigations and overtreatment which still occur in homozygous p.H63D carriers.…”