EASL Clinical Practice Guidelines

Recommendations for genetic testing:

General population:

  • Genetic screening for HFE-HC is not recommended, because disease penetrance is low and only in few C282Y homozygotes will iron overload progress (1B).Patient populations:
  • HFE testing should be considered in patients with unexplained chronic liver disease pre-selected for increased transferrin saturation (1C).
  • HFE testing could be considered in patients with:
    • Porphyria cutanea tarda (1B).
    • Well-defined chondrocalcinosis (2C).
    • Hepatocellular carcinoma (2C).
    • Type 1 diabetes (2C).

  • HFE testing is not recommended in patients with
    • Unexplained arthritis or arthralgia (1C).
    • Type 2 diabetes (1B).