From the Guidelines
Monitoring for hereditary hemochromatosis should include regular assessment of serum ferritin and transferrin saturation levels every 3-6 months during initial treatment, then annually once levels normalize, as recommended by the American College of Physicians 1. For patients undergoing therapeutic phlebotomy, the goal is to maintain ferritin levels between 50-100 ng/mL and transferrin saturation below 50% 1. Liver function tests should be performed annually to monitor for liver damage, and patients should also receive regular screening for complications, including:
- Liver ultrasound or elastography every 6-12 months for those with cirrhosis
- Cardiac evaluation if symptoms develop
- Blood glucose monitoring for diabetes
- Joint examinations should be conducted annually to assess for arthropathy For those with established organ damage, more frequent monitoring may be necessary, such as hepatocellular carcinoma screening every 6 months in patients with cirrhosis 1. Family members should be screened with genetic testing and iron studies, as the risk for developing the disease may be higher than that of the general population if there is a family history of hereditary hemochromatosis 1. This comprehensive monitoring approach is essential because hemochromatosis leads to progressive iron overload that can damage multiple organs if left untreated, and early detection of complications allows for timely intervention to prevent further damage and improve outcomes.
From the Research
Monitoring for Hereditary Hemochromatosis
- Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron, and it is the most common genetic disease in whites 2.
- The diagnosis of hereditary hemochromatosis requires confirmation of increased serum ferritin levels and transferrin saturation, with or without symptoms 2, 3.
- Serum ferritin measurement is the most useful prognostic indicator of disease severity, and liver biopsy is performed to stage the degree of fibrosis with severe ferritin elevation or transaminitis 2.
- Universal screening for hereditary hemochromatosis is not recommended, but testing should be performed in first-degree relatives of patients with classical HFE-related hemochromatosis, those with evidence of active liver disease, and patients with abnormal iron study results 2, 4.
Screening Strategies
- Screening for HFE mutations among certain patient groups, including patients with cirrhosis, may help target those who would benefit most from iron removal 4.
- Genetic testing for the hereditary hemochromatosis genes should be offered after 18 years of age to first-degree relatives of patients with the condition 5.
- Ferritin levels greater than 300 ng per mL for men and 200 ng per mL for women and transferrin saturations greater than 45% are highly suggestive of hereditary hemochromatosis 5.
Treatment and Management
- Phlebotomy is the mainstay of treatment and can help improve heart function, reduce abnormal skin pigmentation, and lessen the risk of liver complications 5, 3.
- Iron chelation therapies are available for patients unable to tolerate phlebotomy 4.
- Liver transplantation may be considered in select patients 5.
- Individuals with hereditary hemochromatosis have an increased risk of hepatocellular carcinoma and colorectal and breast cancers, and screening for hepatocellular carcinoma is reserved for those with hereditary hemochromatosis and cirrhosis 2, 5.