Hereditary Hemochromatosis: New Guidelines and Implications for Primary Care

Abstract

Hereditary hemochromatosis (HH) is an autosomal recessive mutation that results in iron overload. Undetected, it can cause irreversible organ damage to the pituitary and thyroid glands, heart, liver, pancreas, testis, skin, and joints. This irreversible damage can lead to gonadotropin insufficiency, hypothyroidism, heart disease, cirrhosis, hepatocellular carcinoma, diabetes, hypogonadism, bronzing of the skin, pseudogout, and arthropathy. This case study describes a patient who presented to a primary care office for a routine examination with nonspecific complaints and was found to have elevated aminotransferases. Further testing revealed a diagnosis of HH. This case study also illustrates new guidelines outlined for the diagnosis and treatment of HH from the American College of Gastroenterology in 2019.