Last reviewed: 31 Jun 2021
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

Other diagnostic factors

  • congestive heart failure
  • arrhythmias
  • porphyria cutanea tarda

Risk factors

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

Diagnostic investigations

1st investigations to order

  • serum transferrin saturation
  • serum ferritin

Investigations to consider

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

Treatment algorithm

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.

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