Hemocromatose hereditária: Relate de caso e revisão da literatura

Abstract

Background - HFE-associated hemochromatosis is one of the most common inherited liver disease in Caucasian populations and refers to the association of increased iron stores with tissue damage (e.g., cirrhosis, diabetes, cardiomyopathy), which is progressive when diagnosis and treatment are delayed. Aims - Description of a case of hereditary hemochromatosis in an asymptomatic 44-years-old patient, whose diagnosis was made through casual identification of abnormal iron markers. We will also present a brief review of the literature about the topic. Conclusions - Hereditary hemochromatosis is an ideal disease for primary prevention since the disease can be detected well before serious complications develop. This intervention has been shown to prevent the manifestations of the disease, altering its natural history.