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Hemochromatosis

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  • 概述
  • 理论
  • 诊断
  • 治疗
  • 随访
  • 资源
最后审阅： 18 Apr 2026
最后更新： 19 Nov 2024

小结

定义

病史和体格检查

关键诊断因素

  • fatigue
  • weakness
  • lethargy
  • arthralgias
  • hepatomegaly
  • diabetes mellitus
  • impotence in males
  • amenorrhea
  • loss of libido
  • skin pigmentation
完整详情

其他诊断因素

  • congestive heart failure
  • arrhythmias
  • porphyria cutanea tarda
完整详情

危险因素

  • middle age
  • male sex
  • white ancestry
  • family history
  • supplemental iron
完整详情

诊断性检查

首要检查

  • serum transferrin saturation
  • serum ferritin
完整详情

需考虑的检查

  • 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
完整详情

治疗流程

持续性治疗

stage 0 disease (C282Y homozygous)

stage 1 disease (C282Y homozygous)

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

not C282Y homozygous

撰稿人

作者

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

利益声明

KEB declares that she has no competing interests.

鸣谢

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.

同行评议者

Pierre Brissot, MD

Professor of Medicine and Chief of Liver Disease Department

University Hospital Pontchaillou

Rennes

France

利益声明

PB declares that he has no competing interests.

William E. Cayley, MD MDiv

Associate Professor

Department of Family Medicine

University of Wisconsin

Madison

WI

利益声明

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.

参考文献

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

关键文献

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

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

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

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.全文  摘要

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.全文  摘要

参考文献

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

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