Treatment is simple, inexpensive, and safe. The first step is to rid the body of excess iron. This process is called phlebotomy, which means removing blood the same way it is drawn from donors at blood banks. Based on the severity of the iron overload, a pint of blood (500ml) is taken once or twice a week for several months to a year, and occasionally longer. A phlebotomy of one unit of blood usually drops the ferritin level by about 30 μg/L. Blood ferritin levels are tested periodically to monitor iron levels. The goal is to bring blood ferritin levels to the low end of normal and to keep them there. That means bringing the ferritin down to 50-100 ng/L.
Once iron levels return to normal, maintenance therapy begins, which involves removing a pint of blood every 2 to 4 months for life. Some people may need phlebotomies more often. Many patients who are having maintenance phlebotomy do so as blood donors. An annual blood ferritin test will help determine how often blood should be removed. Regular follow-up with a specialist who has an interest in hemochromatosis or iron overload disorder is also necessary. This may be a hematologist (blood doctor) or a gastroenterologist/hepatologist (digestive or liver doctor).
If treatment begins before organs are damaged, associated conditions—such as liver disease, heart disease, arthritis, and diabetes—can be prevented. The outlook for people who already have these conditions at diagnosis depends on the degree of organ damage. For example, treating HH can stop the progression of liver disease in its early stages, which leads to a normal life expectancy. However, if cirrhosis, or scarring of the liver, has developed, the person’s risk of developing liver cancer increases, even if iron stores are reduced to normal levels. People with diabetes resulting from damage to the pancreas usually see an improvement if not a reversal of their diabetes, depending on how much damage has occurred. Treatment cannot cure the conditions associated with established HH, but it will help most of them improve. Abnormal liver tests, heart dysfunction, and fatigue may improve with treatment, but joint pain, diabetes and decreased sex drive may not. Skin pigmentation slowly improves after treatment.
You do not need to restrict dietary iron when undergoing phlebotomy. People with HH should not take iron or vitamin C supplements. Patients who have liver damage should not drink alcoholic beverages because they may further damage the liver or eat raw seafood because of a risk for a serious infection.
Who should receive screening and counseling for HH?
Screening for HH—testing people who have no symptoms—is not a routine part of medical care or checkups. However, siblings of patients who have HH should have their blood tested to see if they have the disease or if they are carriers. First degree relatives of patients who have the disease should be offered testing. Testing should include transferrin saturation, ferritin, and
HFE mutation analysis (gene test). When considering testing of children of a patient, it may be easier to test the other parent first. If he/she is negative for any
mutations, then the children can only be carriers. However, if the other parent has a gene mutation, then the children should be offered gene testing. Whenever genetic testing is done, a certified genetic counselor should be available and informed consent should be obtained.
Doctors should counsel patients to have their close relatives be tested and consider testing people who have joint disease, severe and continuing fatigue, heart disease, elevated liver enzymes, impotence, and diabetes because these conditions may result from HH.
What is the likely survival of the HH patient?
Patients with HH without liver cirrhosis do not have different survival rates from that of general population, whereas survival of patients with HH and liver cirrhosis is significantly low.
Can HH patient donate blood?
During initial as well as maintenance phase of treatment, blood removed from HH patient has been used for transfusions. There are no universal policies whether blood from patients with HH should be used for donation or not. Many blood banks have a policy of not accepting blood from patients with HH, although others have done so without any complications.
Author(s) and Publication Date(s)
Bruce R. Bacon, MD, FACG, and Sudhanshu Gogia, MD, Saint Louis University School of Medicine, St. Louis, MO – Published February 2011.
Updated 2020 by Pranav B. Patel, MD, Montgomery, AL for ACG Patient Care Committee
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