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    Hereditary Hemochromatosis (beta)

    Official guideline of the American College of Gastroenterology.

    Strength
    Strong recommendation
    Conditional recommendation
    Evidence
    Moderate quality evidence
    Low quality evidence
    Very low quality evidence

    Screening for Hereditary Hemochromatosis (HH)

    Screening for Hereditary Hemochromatosis (HH)
    1. We recommend that family members, particularly first-degree relatives, of patients diagnosed with HH should be screened for HH.

    Clinical Features

    Clinical Features
    1. We suggest against the routine surveillance for hepatocellular carcinoma (HCC) among patients with HH with stage 3 fibrosis or less.

    Diagnostic Testing

    Diagnostic Testing
    1. 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.
    2. We suggest against further genetic testing among patients with iron overload who tested negative for the C282Y and H63D alleles.
    3. We suggest a non–contrast-enhanced MRI (in conjunction with software used for the estimation of 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 hepatic ion concentration (HIC).

    Treatment

    Phlebotomy
    1. 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.
    Chelation
    1. 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.
    Iron Chelation
    1. 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.
    Proton Pump Inhibitors (PPIs) Use
    1. We recommend against the routine use of PPIs as the primary treatment of HH.

    Liver Transplantation

    Liver Transplantation
    1. We recommend that liver transplantation be considered in patients with HH who have decompensated cirrhosis or HCC.
    What do the icons mean?  
    Research PaperKowdley KV, Brown KE, Ahn J, Sundaram V. Acg clinical guideline: hereditary hemochromatosis. Am J Gastroenterol. 2019;114(8):1202-1218.