Hereditary Hemochromatosis

Publication Date: August 1, 2019

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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Recommendation Grading

Disclaimer

Overview

Title

Hereditary Hemochromatosis

Authoring Organization

Publication Month/Year

August 1, 2019

Supplemental Implementation Tools

Document Type

Guideline

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