Hemochromatosis and Medical Malpractice

Primary Hemochromatosis occurs when too much iron builds up in the body. It is usually caused by a specific genetic problem that causes too much iron to be absorbed. If there is too much iron in the diet, the extra iron is absorbed in the gastrointestinal tract and builds up in the body tissues, particularly the liver, heart and pancreas. The result is damage to these organs. Primary hemochromatosis is the most common genetic disorder in the United States, affecting an estimated 1 of every 200 to 300 Americans.

Hemochromatosis affects more men than women. It is particularly common in Caucasians of western European descent. Symptoms are often seen in men between the ages of 30 and 50 and in women over 50, although some people may develop problems by age 20. There is increased risk if a relative has or had the condition.

Symptoms include severe fatigue (74%), impotence (45%), and arthralgia (44%), abdominal pain, decreased sex drive, lack of menstruation in women, hypothyroidism, and bronzing of the skin. Clinical manifestations include liver disease, skin pigmentation, diabetes mellitus joint damage, (arthropathy), impotence in males, and cardiac enlargement, with or without heart failure or conduction defects. The most common presentation is a patient with an enlarged liver (hepatomegaly), skin pigmentation, and arthritis.

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Along with an elevated serum iron level, other abnormal lab values include an elevated transferin saturation, which measures the amount of iron bound to transferrin, a protein that transports iron, an elevated ferritin, a test used to evaluate the body's iron stores, and an abnormal liver profile (a group of blood tests used to evaluate liver function). Commonly alanine amino transferase (ALT) or alkaline phosphatase are elevated.  When iron stores increase in the pancreas, pancreatitis leading to potentially fatal diabetes can occur. Iron overload damages the liver causing jaundice, which leads to fatal hepatic cirrhosis. The heart is another organ that excess iron can damage, causing it to fail.

Fortunately, primary hemochromatosis has a relatively simple treatment, and these complications, if caught early enough, can usually be reversed by treatment of the iron overload causing them. This treatment in an otherwise-healthy person consists of regularly scheduled phlebotomies (bloodletting). When first diagnosed, the phlebotomies may need to be performed fairly frequently, perhaps as often as once a week, until iron levels can be brought to within the normal range. Once iron and other markers are within the normal range, phlebotomies may be scheduled every other month or every three months depending upon the patient's rate of iron absorbtion.

For those patients unable to tolerate routine bloodletting, or whose blood count is not high enough to allow for it, there is a chelating agent, known as desferoxamine (deferoxamine) that can be used. Chelating agents such as desferoxamine bind with iron in the bloodstream and enhances its elimination from the organs involved via the urine and feces. Typical treatment for chronic iron overload requires subcutaneous injection over a period of 8–12 hours daily.

Primary hemochromatosis must be considered in any patient presenting with an enlarged liver. It also must be suspected if any one liver blood test, seen on any routine metabolic profile, is elevated without an explanation. The same is true for elevated fasting blood sugar levels. This is a disorder that can be successfully treated. And if caught early, a patient can expect to live a normal lifespan. Once the heart, pancreas or liver are damaged, life expectancy is considerably diminished.  Failure by a doctor to timely diagnose hemochromatosis before permanent damage to any bodily organ occurs, may constitute medical malpractice.