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Diagnosis and Management of Hereditary Hemochromatosis

To identify the key insights or developments described in this article
1 Credit CME

Hereditary hemochromatosis (HH) is a heterogeneous genetic disorder that results in unregulated and excessive intestinal iron absorption leading to overabundance of iron deposition in tissue. HH is most common in people of northern European ancestry, for whom the prevalence is 1 case per 300 people.13

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Article Information

Corresponding Author: Lisa B. VanWagner, MD, MSc, Division of Digestive and Liver Diseases, University of Texas Southwestern Medical Center, 5959 Harry Hines Blvd, Ste HP4.420M, Dallas, TX 75390 (lisa.vanwagner@utsouthwestern.edu).

Conflict of Interest Disclosures: Dr VanWagner reported receiving investigator-initiated grant support from W.L. Gore & Associates and grants from Intercept Pharmaceuticals, Enanta Pharmaceuticals, Madrigal Pharmaceuticals, and AMRA Medical; consulting for Noble Insights and Gerson Lehrman Group; and serving as an expert witness outside the submitted work. No other disclosures were reported.

References
1.
Kowdley  KV , Brown  KE , Ahn  J , Sundaram  V .  ACG clinical guideline: hereditary hemochromatosis.   Am J Gastroenterol. 2019;114(8):1202-1218.PubMedGoogle ScholarCrossref
2.
Atkins  JL , Pilling  LC , Masoli  JAH ,  et al.  Association of hemochromatosis HFE p.C282Y homozygosity with hepatic malignancy.   JAMA. 2020;324(20):2048-2057.PubMedGoogle ScholarCrossref
3.
Kane  SF , Roberts  C , Paulus  R .  Hereditary hemochromatosis: rapid evidence review.   Am Fam Physician. 2021;104(3):263-270.PubMedGoogle Scholar
4.
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;54(1):328-343.PubMedGoogle ScholarCrossref
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Kawabata  H .  The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.   Int J Hematol. 2018;107(1):31-43. doi:10.1007/s12185-017-2365-3PubMedGoogle ScholarCrossref
6.
Palmer  WC , Vishnu  P , Sanchez  W ,  et al.  Diagnosis and management of genetic iron overload disorders.   J Gen Intern Med. 2018;33(12):2230-2236.PubMedGoogle ScholarCrossref
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VanWagner  LB , Green  RM .  Elevated serum ferritin.   JAMA. 2014;312(7):743-744.PubMedGoogle ScholarCrossref
8.
European Association for the Study of the Liver.  EASL clinical practice guidelines on haemochromatosis.   J Hepatol. 2022;77(2):479-502.PubMedGoogle ScholarCrossref
9.
Bardou-Jacquet  E , Morandeau  E , Anderson  GJ ,  et al.  Regression of fibrosis stage with treatment reduces long-term risk of liver cancer in patients with hemochromatosis caused by mutation in HFE.   Clin Gastroenterol Hepatol. 2020;18(8):1851-1857. PubMedGoogle ScholarCrossref
AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
  • 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
  • 1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
  • 1.00 CME points in the American Board of Surgery’s (ABS) Continuing Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.

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