Genetic Liver Diseases

Treatment of Hereditary Hemochromatosis (HHC)

Hereditary hemochromatosis (HHC) is the most common genetic liver disorder and is usually diagnosed in adults, especially those of northern European descent. The disorder increases the amount of iron that the body absorbs from the gut, which causes problems in many organs. Excess iron in the liver (the most common complication) causes cirrhosis, which may develop into liver cancer. Iron deposits in the pancreas can result in diabetes. Excess iron stores can also cause cardiomyopathy, pigmentation of the skin, and arthritis.

Diagnosis

Fatigue and joint pain are the most common complaints of people with hemochromatosis. Other common symptoms include lack of energy, abdominal pain, loss of sex drive, and heart problems. Symptoms tend to occur in men between the ages of 30 and 50 and in women older than 50. However, many people have no symptoms when they are diagnosed.

Tests used to diagnose the condition and rule out other conditions that could be causing symptoms include:

• Transferrin saturation test: This blood test determines how much iron is bound to the protein that carries iron in the blood.
• Serum ferritin test: A test for iron levels in the liver.
• Liver biopsy: A needle is inserted through the rib cage and abdominal cavity to obtain a liver tissue sample.
• Genetic testing: For a whole blood test, a vial of blood is drawn from the arm. The cheek test, often used for children, uses a mascara like wand to scrape cells from the inside of the mouth. Both tests are approximately 85 percent accurate.

Genetic testing can identify carriers who may pass on the mutation to their children. Two carriers who never manifest symptoms can have children who inherit the defect and develop the disease. Since early diagnosis means early treatment and effective disease management, there may be benefits in identifying children at risk.

Treatment

Mayo is a leading center for treatment of HHC. Treatment is relatively simple and effective: removing blood from the patient (phlebotomy) to lower the overall level of iron in the blood.

Initially, the patient undergoes phlebotomy once or twice a week. After this initial phase, phlebotomies are performed only as needed to keep iron levels normal. When phlebotomy is started early in the course of the illness, it can prevent most complications, except for arthritis. But even if phlebotomy is begun after complications have occurred, the treatment can still decrease symptoms and improve life expectancy.

Blood ferritin levels are tested after every four to eight phlebotomies to monitor iron levels. The goal is to bring blood ferritin levels to the low end of normal and keep them there. Once iron levels return to normal, maintenance therapy begins, which involves removing a pint of blood every one to four months for life. Some people may need blood removed more often.

Publications

See list of publications from Mayo doctors on Hemochromatosis on PubMed, a service of the National Library of Medicine.

Related Links

Below are some helpful Internet resources on this topic. Mayo Clinic does not own or control any of these sites and is not responsible for their content. Inclusion of these sites does not imply endorsement by Mayo Clinic.

http://www.nlm.nih.gov/medlineplus/hemochromatosis.html
Medline Plus

http://www.americanhs.org/
American Hemochromatosis Society

www.irondisorders.org
Iron Disorders Institute