SEARCH

SEARCH BY CITATION

Keywords:

  • Genetics;
  • digestive system;
  • liver;
  • nurse practitioners;
  • primary care

Abstract

Purpose

HFE-hemochromatosis is one of the most common genetic disorders in the United States among Caucasians of Northern European ancestry. The purpose of this article is to discuss HFE-associated hereditary hemochromatosis (HH), including the genetics, pathophysiology, phenotype and genotype, diagnostics, and management utilizing a case-based format as an exemplar.

Data sources

Online genetic resources; professional guidelines; review; and scientific articles.

Conclusion

HFE-HH is an autosomal recessive disorder and two major genes C282Y and H63D are associated with HH (iron overload) susceptibility particularly C282Y/C282Y mutations. It has a variable penetrance and expression. Individuals who develop iron overload may develop broad symptoms, including joint discomfort, fatigue, decreased libido, and abdominal pain; and if left untreated, HFE-HH has the potential of developing end-organ disease including liver fibrosis, cirrhosis, and cancer; cardiac arrhythmias or heart failure; and diabetes. Suspicion of the disorder begins with personal and family history, transferrin saturation, and ferritin levels, and if high, genotyping to confirm the disorder. Management consists of correcting iron overload to prevent/delay end-organ damage often consisting of intermittent phlebotomy.

Implications for practice

Knowledge of HFE-HH is essential so that nurse practitioners can identify individuals at risk and to provide appropriate management of care and referral.