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Hemochromatosis

Last reviewed: 19 Aug 2025
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

Declarações

KEB declares that she has no competing interests.

Agradecimentos

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.

Revisores

Pierre Brissot, MD

Professor of Medicine and Chief of Liver Disease Department

University Hospital Pontchaillou

Rennes

France

Declarações

PB declares that he has no competing interests.

William E. Cayley, MD MDiv

Associate Professor

Department of Family Medicine

University of Wisconsin

Madison

WI

Declarações

WEC declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Haute Autorité de Santé (France). Management of patients with HFE-related haemochromatosis (type 1 haemochromatosis). Jul 2005 [internet publication].Texto completo

Kowdley KV, Brown KE, Ahn J, et al. ACG clinical guideline: hereditary hemochromatosis. Am J Gastroenterol. 2019 Aug;114(8):1202-18.Texto completo  Resumo

European Association for the Study of the Liver. EASL clinical practice guidelines on haemochromatosis. J Hepatol. 2022 Aug;77(2):479-502.Texto completo  Resumo

Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul;54(1):328-43.Texto completo  Resumo

Fitzsimons EJ, Cullis JO, Thomas DW, et al. Diagnosis and therapy of genetic haemochromatosis (review and 2017 update). Br J Haematol. 2018 May;181(3):293-303.Texto completo  Resumo

Artigos de referência

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