Hemochromatosis – Top USMLE Diseases

Hereditary hemochromatosis (HH) is an autosomal recessive disorder most often associated with HFE gene mutations. Patients have increased iron intestinal absorption and iron deposition in several organs, such as the liver, heart, skin, and pancreas. The clinical presentation includes the triad of cirrhosis, diabetes, and skin bronzing. Other findings depend on the organ(s) involved. Diagnosis consists of iron studies, showing transferrin (Tf) and ferritin elevation. Genetic screening is recommended among family members. Imaging and invasive studies are performed depending on the associated complications. Management requires phlebotomy (or iron chelation therapy in some cases) to prevent disease progression. The prognosis is good for patients who are early in the disease and undergoing treatment. The presence of hepatic fibrosis is a poor prognostic factor.