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Metabolic and Genetic Liver Diseases: Hemochromatosis

  • Matthew J. StottsEmail author
  • Bruce R. Bacon
Chapter

Abstract

Hereditary hemochromatosis is considered the most common genetic disorder identified in Caucasians. Inherited in an autosomal recessive fashion, patients homozygous for C282Y and occasionally those who are compound heterozygotes (C282Y/H63D) are at risk for developing iron overload. Patients with progressive iron overload may develop nonspecific symptoms including fatigue, and can eventually develop arthropathy, hypogonadism, and complications of chronic liver disease, diabetes, and heart failure.

With early diagnosis and treatment, patients can expect to have a normal life span. This underscores the importance of identifying patients with the disease and initiating treatment as early as possible. To identify these patients, those with abnormal iron or liver function tests—as well as those with any signs or symptoms of hemochromatosis—should be evaluated with serum iron studies and, if abnormal (either an elevated ferritin or a transferrin saturation of ≥45 %), with HFE mutation analysis. When a first degree family member has the diagnosis, HFE mutation analysis and serum iron studies should be done simultaneously.

If a patient is diagnosed with hemochromatosis and has an elevated ferritin, therapeutic phlebotomy should be initiated. Those with advanced disease may require screening for hepatocellular carcinoma and may require management of complications of chronic liver disease.

Keywords

Hemochromatosis HFE C282Y H63D Iron Iron overload Cirrhosis Phlebotomy 

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Copyright information

© Springer International Publishing Switzerland 2017

Authors and Affiliations

  1. 1.Banner HealthColoradoUSA
  2. 2.Division of Gastroenterology & HepatologySt. Louis UniversitySaint LouisUSA

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