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 is usually with nonspecific symptoms and signs such as fatigue and joint pain in patients over 40, abnormal liver function tests, and hypogonadism in men. Diagnosis is made by laboratory testing showing high transferrin saturation or ferritin indicative of iron overload. Other testing includes genetic testing for HFE variants and MRI to quantify liver or heart iron overload. If untreated, HH can lead to cirrhosis, type 2 diabetes, and bronze-colored skin. Other findings depend on the organ(s) involved. Genetic screening is recommended for family members. Management requires phlebotomy (or iron chelation therapy in some cases) to prevent disease progression. The prognosis depends on the severity of iron overload and organ injury at the time of diagnosis and the extent of iron removal. The presence of hepatic fibrosis is a poor prognostic factor.

Liver function tests, also known as hepatic function panels, are one of the most commonly performed screening blood tests. Such tests are also used to detect, evaluate, and monitor acute and chronic liver diseases. Liver function tests assess the levels of various hepatic proteins and enzymes to determine the state of liver metabolic activity, homeostasis, bile metabolism, and protein synthesis capacity. The standard hepatic panel includes the levels of total protein, bilirubin, albumin, ALT, AST, AST/ALT ratio, and alkaline phosphatase (ALP).

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.