A Diagnosis Missed 98 Percent of the Time
06 Jun 2013
What’s the diagnosis when a middle-aged man seems to be dying of heart failure, but his coronary arteries and heart valves are normal? I doubt that many have an answer. But don’t feel bad as it’s also missed by most doctors even though iron overload is the most common genetic disease of white males.
I’ve heard this remark many times from patients.”I’m so tired. Could the problem be that my blood is low?” Sometimes the patient is right and iron is needed to treat anemia. But if the diagnosis is hemochromatosis (iron overload), a prescription for iron is a death sentence.
Trosseau, a French physician, first described this problem in 1865. At that time hemochromatosis was considered a rare occurrence. Now one and a half million North Americans have this abnormal gene, or about one in 250 people. But only about 10 percent will develop symptoms, for reasons we do not understand.
Iron overload is primarily a disease of white people. It is less common in blacks and practically unknown in Asians. Normally, it makes its appearance at ages in the 40s and 50s and affects five times more men than women.
We all need iron to survive every day and consume 10 to 20 milligrams (mg) of iron in our diet. But we only need one mg, so a little iron goes a long way. This same amount is lost daily from shedding skin cells, bowel and urinary tract contents.
Hepcidin, a liver protein, normally protects us from iron overload with the bowel absorbing what’s needed and discarding the rest in feces. But if a defective gene is present there’s decreased production of hepcidin, the intestinal balance is lost, resulting in unregulated absorption of iron,
It’s been said that “Too much of anything is worse than none at all”. In this case excessive amounts of iron cause damage to many organs in the body. This is the reason that the middle-aged man with normal coronary arteries and heart valves is suffering from heart failure. The muscles of the heart have been infiltrated with iron causing a weakened heartbeat. Too much iron can also interfere with the electrical conduction system of the heart, triggering an irregular rhythm.
The liver is the organ most often affected by Iron overload. It may result in cirrhosis of the liver which in turn can lead to liver cancer.
In addition, excessive amounts of iron will gradually destroy the pancreas that produces insulin. This results in a disease called, “bronze diabetes” since the iron deposited in the skin causes a bronze pigmentation.
Arthritis is also a common symptom involving the knuckles and first joints of the first two fingers. Men often notice a loss of sex drive or impotence. And women are more likely to have scanty periods or face early menopause.
Hemochromatosis is often a missed diagnosis for one common reason. No-one thinks about it. Often patients see several doctors before the diagnosis is made.
One would think that with so many laboratory tests being done today, surely iron overload would be diagnosed and treated. But the routine blood test does not detect it. Doctors must check the blood level of serum ferritin, the protein that stores iron, and the best indicator that excessive amounts of iron are present. But if further testing shows that transferrin, the protein that carries iron in the circulation is saturated with iron, this confirms the diagnosis.
Be sure to ask your doctor about blood ferritin if you are aware of a family history of hemochromatosis. Or if close family members have been treated for unexplained cases of cirrhosis , heart failure or if liver function tests have been abnormal.
It’s also prudent to check blood ferritin if you’re taking vitamin C. This vitamin increases the amount of iron absorbed from the bowel and could result in hastening the adverse effects of hemochromatosis.
The treatment of iron overload is a periodic removal of blood from circulation. But before this is started it is prudent to have genetic testing done.
