Suspecting and diagnosing hereditary hemochromatosis

DEAR DR. ROACH: My husband was diagnosed with hemochromatosis 13 months before he died. I recommended that his blood relatives get tested so they can get treatment early, if necessary. Some doctors don’t know to check ferritin levels to make a diagnosis in a person with a family history of hemochromatosis. — C.G.
ANSWER: Hereditary hemochromatosis (HHC) is a genetic disease of iron overload. In a person with HHC, the intestines absorb as much iron as they can all the time, even if the body doesn’t need it, whereas a person without HHC will simply stop absorbing iron if it isn’t necessary. The iron can go into and damage many organs, especially the liver, heart, bone marrow, hormone-producing glands and skin.
The diagnosis should be suspected in close relatives of an affected person. Although checking ferritin levels is useful in making the diagnosis, iron, total iron-binding capacity and hemoglobin tests also should be ordered. If the family member has a recognized genetic mutation, such as C282Y homozygote or C282Y/H63D compound heterozygote, those genetic tests also may be useful in making the diagnosis.
The diagnosis should be suspected even in people with vague symptoms, such as weakness and fatigue. I teach my students and residents to consider the possibility of iron overload, as it is common, easily tested for and easily treated with phlebotomy (blood removal). Symptomatic HHC is more common at an earlier age in men than women, but it still should be considered even in younger women.
A clinician also should consider iron overload in people with enlarged livers or abnormal liver enzymes; diabetes; changes in skin tone (bronze or gray); heart failure; and some kinds of arthritis. Most people with these conditions do not have HHC, but initial testing is cheap and easy.
Treatment can be done by donating blood. My first patient with HHC donated over 100 units of blood before his blood levels came down to the target range.
DEAR DR. ROACH: I am one of the people who cannot take statins because of muscle pain. My cardiologist suggested Praluent, and it works fine — no muscle pain, as well as very low HDL and LDL cholesterol levels for over two years now.
However, I keep seeing articles about muscle pain and statins and never see Praluent referred to as an alternative. Why? — T.G.
ANSWER: Alirocumab (Praluent) is an antibody to a compound called PCSK9. This causes the liver to remove LDL cholesterol from the blood and lower the levels of this “bad” kind of cholesterol, which, in turn, leads to a reduction in heart disease risk among those taking the medication. It does not cause muscle damage. PCSK9 inhibitors may be used alone or in combination with statins.
Unfortunately, the medication is expensive, about $500 per month. It is most often used in people with known blockages in their heart, but some experts prescribe alirocumab in high-risk patients who do not have known blockages. Insurance coverage is not assured. Furthermore, it is given only as an injection, usually every two or four weeks.
PCSK9 inhibitors are an important tool in the fight against heart disease and are of special value in those at the highest risk or those who cannot tolerate a statin.
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Dr. Roach regrets that he is unable to answer individual letters, but will incorporate them in the column whenever possible. Readers may email questions to [email protected] or send mail to 628 Virginia Dr., Orlando, FL 32803.
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