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Hemochromatosis

Last reviewed: 10 Nov 2024
Last updated: 19 Nov 2024

Summary

Definition

History and exam

Key diagnostic factors

  • fatigue
  • weakness
  • lethargy
  • arthralgias
  • hepatomegaly
  • diabetes mellitus
  • impotence in males
  • amenorrhea
  • loss of libido
  • skin pigmentation
Full details

Other diagnostic factors

  • congestive heart failure
  • arrhythmias
  • porphyria cutanea tarda
Full details

Risk factors

  • middle age
  • male sex
  • white ancestry
  • family history
  • supplemental iron
Full details

Diagnostic tests

1st tests to order

  • serum transferrin saturation
  • serum ferritin
Full details

Tests to consider

  • HFE mutation analysis
  • serum-based fibrosis tests/transient elastography
  • MRI liver
  • liver biopsy
  • LFTs
  • fasting blood sugar
  • echocardiogram
  • ECG
  • MRI heart and other organs
  • testosterone, FSH, and LH assays
  • bone densitometry
Full details

Treatment algorithm

ONGOING

stage 0 disease (C282Y homozygous)

stage 1 disease (C282Y homozygous)

stage 2, 3, or 4 disease (C282Y homozygous)

not C282Y homozygous

Contributors

Authors

Kyle E. Brown, MD, Msc, FAASLD

Professor of Internal Medicine - Gastroenterology and Hepatology

Professor of Radiation Oncology

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

    • Clinical practice guidelines on haemochromatosis
    • ACG clinical guideline: hereditary hemochromatosis
    More Guidelines
  • Patient information

    Diabetes type 2: should I take insulin?

    Heart failure

    More Patient information
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