Haemochromatosis

Last reviewed: 6 Sep 2022
Last updated: 11 Mar 2021

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • fatigue
  • weakness
  • lethargy
  • arthralgias
  • hepatomegaly
  • diabetes mellitus
  • impotence in males
  • loss of libido
  • skin pigmentation
More key diagnostic factors

Other diagnostic factors

  • congestive heart failure
  • arrhythmias
  • porphyria cutanea tarda
Other diagnostic factors

Risk factors

  • middle age
  • male sex
  • white ancestry
  • family history
  • supplemental iron
More risk factors

Diagnostic investigations

1st investigations to order

  • serum transferrin saturation
  • serum ferritin
More 1st investigations to order

Investigations to consider

  • HFE mutation analysis
  • MRI liver
  • liver biopsy
  • LFTs
  • fasting blood sugar
  • echocardiogram
  • ECG
  • testosterone, FSH, and LH assays
  • bone densitometry
More investigations to consider

Treatment algorithm

ONGOING

stage 0 disease

stage 1 disease

stage 2, 3, or 4 disease

Contributors

Authors

Kyle E. Brown, MD, FAASLD

Professor of Internal Medicine

University of Iowa Carver College of Medicine

Iowa City

IA

Disclosures

KEB declares that she has no competing interests.

Acknowledgements

Dr Kyle E. Brown would like to gratefully acknowledge Dr Rebecca Fischer Connor, the previous contributor to this topic. RFC declares that she has no competing interests.

Peer reviewers

Pierre Brissot, MD

Professor of Medicine and Chief of Liver Disease Department

University Hospital Pontchaillou

Rennes

France

Disclosures

PB declares that he has no competing interests.

William E. Cayley, MD MDiv

Associate Professor

Department of Family Medicine

University of Wisconsin

Madison

WI

Disclosures

WEC declares that he has no competing interests.

  • Differentials

    • Iron overload from chronic transfusion
    • Hepatitis B
    • Hepatitis C
    More Differentials
  • Guidelines

    • ACG clinical guideline: hereditary hemochromatosis
    • ACG clinical guideline: hereditary hemochromatosis
    More Guidelines
  • Patient leaflets

    Diabetes: What can I do to keep healthy?

    Heart failure

    More Patient leaflets
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