Hereditary Hemochromatosis
Publication Date: August 1, 2019
Last Updated: March 14, 2022
Recommendations
Screening for HH
1. We recommend that family members, particularly first-degree relatives, of patients diagnosed with HH should be screened for HH. (Strong “We recommend”, Moderate)
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Clinical features
2. We suggest against the routine surveillance for HCC among patients with HH with stage 3 fibrosis or less. (Conditional (weak) “We suggest”, Very low)
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Diagnostic testing
3. We recommend that individuals with the H63D or S65C mutation in the absence of C282Y mutation should be counseled that they are not at increased risk of iron overload. (Conditional (weak) “We suggest”, Very low)
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4. We suggest against further genetic testing among patients with iron overload who tested negative for the C282Y and H63D alleles. (Conditional (weak) “We suggest”, Very low)
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5. We suggest a non–contrast-enhanced MRI (in conjunction with software used for the estimation of hepatic iron concentration (HIC) (i.e., MRI T2*) be used to noninvasively measure liver iron concentration, in the non-C282Y homozygote with suspected HH. If there is a concomitant need to stage hepatic fibrosis or evaluate for alternate liver diseases, then liver biopsy is the preferred method to determine HIC. (Conditional (weak) “We suggest”, Low)
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Treatment
6. We recommend that phlebotomy be used as the first-line treatment in patients diagnosed with HH, as determined by C282Y homozygosity or C282Y/H63D compound heterozygosity. (Strong “We recommend”, Moderate)
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7. We recommend against chelation as the first-line therapy for HH, given the effectiveness of phlebotomy, the associated side effects of chelation including hepatic and renal toxicity, and the relatively small sample size of clinical trials supporting chelation. (Strong “We recommend”, Low)
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8. We recommend the use of iron chelation for the treatment of HH in the patient who is intolerant or refractory to phlebotomy or when phlebotomy has the potential for harm, such as in patients with severe anemia or congestive heart failure. (Strong “We recommend”, Low)
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9. We recommend against the routine use of proton pump inhibitors (PPIs) as the primary treatment of HH. (Strong “We recommend”, Low)
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Liver transplantation for HH
10. We recommend that liver transplantation be considered in patients with HH who have decompensated cirrhosis or HCC. (Strong “We recommend”, Low)
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Title
Hereditary Hemochromatosis
Authoring Organization
American College of Gastroenterology
Publication Month/Year
August 1, 2019
Last Updated Month/Year
June 13, 2023
External Publication Status
Published
Country of Publication
US
Document Objectives
It updates recent advances in the diagnosis, management, and treatment of Hereditary Hemochromatosis
Target Patient Population
Patients with hereditary hemochromatosis
Inclusion Criteria
Female, Male, Adolescent, Adult, Child, Older adult
Health Care Settings
Ambulatory, Hospital, Outpatient
Intended Users
Nurse, nurse practitioner, physician, physician assistant
Scope
Assessment and screening, Diagnosis, Management, Treatment
Diseases/Conditions (MeSH)
D005820 - Genetic Testing, D006432 - Hemochromatosis, D030342 - Genetic Diseases, Inborn
Keywords
genetic testing, hemochromatosis, hereditary, genetic disorder, liver biopsy
Source Citation
Kowdley, Kris V. MD, FACG; Brown, Kyle E. MD, MSc2; Ahn, Joseph MD, MS, MBA, FACG (GRADE Methodologist); Sundaram, Vinay MD, MSc. ACG Clinical Guideline, The American Journal of Gastroenterology: August 2019 - Volume 114 - Issue 8 - p 1202-1218 doi: 10.14309/ajg.0000000000000315