Summary
Definition
History and exam
Key diagnostic factors
- fatigue
- weakness
- lethargy
- arthralgias
- hepatomegaly
- diabetes mellitus
- impotence in males
- amenorrhea
- loss of libido
- skin pigmentation
Other diagnostic factors
- congestive heart failure
- arrhythmias
- porphyria cutanea tarda
Risk factors
- middle age
- male sex
- white ancestry
- family history
- supplemental iron
Diagnostic tests
1st tests to order
- serum transferrin saturation
- serum ferritin
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
Treatment algorithm
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.
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.
References
Key articles
Haute Autorité de Santé (France). Management of patients with HFE-related haemochromatosis (type 1 haemochromatosis). Jul 2005 [internet publication].Full text
Kowdley KV, Brown KE, Ahn J, et al. ACG clinical guideline: hereditary hemochromatosis. Am J Gastroenterol. 2019 Aug;114(8):1202-18.Full text Abstract
European Association for the Study of the Liver. EASL clinical practice guidelines on haemochromatosis. J Hepatol. 2022 Aug;77(2):479-502.Full text Abstract
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.Full text Abstract
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.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Iron overload from chronic transfusion
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- ACG clinical guideline: hereditary hemochromatosis
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