Can a person develop hemochromatosis and how is it treated?

From the Guidelines

Yes, a person can develop hemochromatosis, a condition where too much iron builds up in the body.

Treatment and Management

Treatment primarily involves regular phlebotomy (blood removal), where 400-500 mL of blood is removed weekly or biweekly until iron levels normalize, then maintenance phlebotomy every 2-4 months for life, as recommended by the American Association for the Study of Liver Diseases in 2011 1. For those who cannot tolerate phlebotomy, iron chelation therapy with medications like deferoxamine, deferiprone, or deferasirox may be used, as these medications bind to excess iron so it can be excreted from the body. Patients should also avoid iron supplements, vitamin C supplements with meals (which increases iron absorption), and limit alcohol consumption which can worsen liver damage. A low-iron diet may help, including reducing red meat intake. Hemochromatosis occurs either due to genetic mutations (hereditary hemochromatosis) or secondary causes like multiple blood transfusions or certain anemias. Without treatment, iron overload can damage organs including the liver, heart, and pancreas, potentially causing cirrhosis, heart failure, diabetes, and other complications.

Key Considerations

• The diagnosis of hereditary hemochromatosis is usually based on a combination of genetic or phenotypic criteria, including direct DNA testing for the 2 HFE gene mutations (C282Y and H63D) associated with hereditary hemochromatosis, as noted in a study published in the Annals of Internal Medicine in 2005 1.
• The natural history of the disease makes it difficult to manage patients with hereditary hemochromatosis, and there are no clearly defined criteria to risk-stratify patients into groups more or less likely to develop overt disease, as discussed in a guideline from the American College of Physicians in 2005 1.
• Early identification and preemptive treatment of those at risk is required to reduce the morbidity and mortality of hemochromatosis, as emphasized in a study published in Hepatology in 2001 1.

Recommendations

• Regular phlebotomy is the primary treatment for hemochromatosis, with the goal of reducing iron levels to normal and preventing organ damage, as recommended by the American Association for the Study of Liver Diseases in 2011 1.
• Patients with hemochromatosis should be counseled regarding the importance of avoiding iron supplements, vitamin C supplements, and excessive alcohol consumption, and maintaining a low-iron diet, as discussed in various studies 1.

From the Research

Development of Hemochromatosis

• Hemochromatosis is a genetic disorder that can cause systemic iron overload, leading to end-organ failure and death if left untreated 2.
• It is an autosomal recessive disorder that disrupts iron homeostasis, resulting in systemic iron overload, and is the most common inherited disorder among people of northern European ancestry 3.
• The disorder is characterized by excessive iron absorption and the toxic accumulation of iron in parenchymal cells, which can cause functional insufficiency of organs such as the liver, heart, pancreas, and other endocrine organs 4.

Treatment of Hemochromatosis

• The mainstay of treatment for hemochromatosis is phlebotomy, which can help improve heart function, reduce abnormal skin pigmentation, and lessen the risk of liver complications 3.
• Phlebotomy can also prevent or reverse organ damage from iron overload if initiated early 2, 4.
• Iron chelation can be used in some patients, and hepcidin supplementation might be an innovative future approach 5.
• Liver transplantation may be considered in select patients, and individuals with hereditary hemochromatosis have an increased risk of hepatocellular carcinoma and colorectal and breast cancers 3.

Diagnosis of Hemochromatosis

• Diagnosis of hemochromatosis can be challenging, as elevated serum ferritin may be seen in a variety of conditions, including acute and chronic liver disease, systemic inflammatory states, and primary and secondary iron overload syndromes 2.
• Serum iron, total iron-binding capacity (TIBC), and ferritin levels are useful screening studies, but liver biopsy with quantitative chemical determination of iron concentration is essential to evaluate histopathological changes and distinguish hereditary hemochromatosis from secondary iron overload 4.
• Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease 6.
• Noninvasive diagnosis includes clinical examination, assessment of plasma iron parameters, imaging, and genetic testing 5.