Snapshot A 42-year-old woman with a history of polycystic ovarian syndrome and diabetes presents to her primary care physician's office for abdominal pain. She reports that she has experienced this for the past few months. On physical exam, her skin is noted to be hyperpigmented. She also has hepatomegaly. Given these findings, her physician sends her for laboratory testing, which shows elevated transaminases, iron, and ferritin. She is scheduled for regular phlebotomy. Introduction Clinical definition hemochromatosis is a disease of iron accumulation, characterized by the classic triad login to view 3 more bullets Epidemiology demographics login to view 3 more bullets etiology login to view 3 more bullets Pathogenesis ↑ intestinal absorption of iron, leading to iron overload iron accumulation in organs cause end-organ damage Genetics autosomal recessive HFE gene mutation on chromosome 6 login to view 2 more bullets associated with HLA-A3 Presentation Symptoms cirrhosis login to view 5 more bullets diabetes mellitus hyperpigmentation of skin login to view 2 more bullets arthropathy login to view 1 more bullet hypogonadism login to view 2 more bullets systemic symptoms login to view 2 more bullets heart failure Studies Diagnostic testing imaging login to view 2 more bullets studies login to view 10 more bullets Diagnostic criteria based on clinical history and exam with ↑ transferrin saturation or ferritin Nonalcoholic fatty liver disease (NAFLD) distinguishing factor login to view 1 more bullet Vibrio vulnificus infection distinguishing factors login to view 2 more bullets Treatment First-line regular phlebotomy login to view 2 more bullets iron chelation therapy login to view 3 more bullets Second-line liver transplant login to view 2 more bullets Complications Hepatocellular carcinoma patients should undergo regular screening Cardiomyopathy dilated > restrictive