Probably the greatest difficulty in diagnosing early hemochromatosis is that it is non-specific and the symptoms are vague.
Many sufferers are often diagnosed with the “flu” or “chronic fatigue syndrome”. Some have suffered years where they have been suspected of malingering. Paradoxically anemia may firstly be suspected because of decreased energy. If the correct tests are not done sufferers may even be given iron tablets which further worsen their symptoms. Iron overload is insidious and usually takes many years to develop. Women may begin to load iron at menopause as the phlebotomy effect of menstruation has ceased. If this possibility is not suspected the symptoms may be written off as being due to “hormonal changes”.
The earliest symptoms of hemochromatosis are fatigue and arthralgia or aching joints. Once iron has begun to accumulate in body tissues the liver may be affected. In the past it has not been uncommon for sufferers to be suspected or being secret drinkers when abnormal liver function tests are found. As iron continues to accumulate the condition of the liver may worsen and other organs may be affected. Other organs which may be involved include the skin, pancreas, ovaries, testes, heart, digestive system, thyroid and joints. Annoying skin rashes, palpitations, impotence and diabetes may be a consequence of too much iron. Many patients suffer from recurrent infections and may decide to take “immune boosters” which are metabolised by the liver. This can make their condition worse.
Patients with severe hemochromatosis may present with septicemia or blood poisoning, heart failure, failure of the reproductive organs and severe arthritis where joint replacement is necessary. In the worst cases liver transplant may be necessary. Those cases that require liver transplant have a 50% mortality within the year after transplant. This mortality is often due to heart problems or septicemia. Men over 55 years of age with severe hemochromatosis have 200 times the chance of developing liver cancer.
It is important to have a high index of suspicion for the possibility of hemochromatosis as the disorder is a great mimicker of other disorders. With the rapidly advancing knowledge on the disorder it is becoming more common for doctors to order transferrin (transferrin-iron) saturations (TS) on their patients and unsuspected cases of hemochromatosis are being found more frequently. Elevation of TS values is a big clue as to the diagnosis. However if only ferritin levels are ordered an early case of hemochromatosis or even a person with hemochromatosis who has been a blood donor may be missed. Testing for iron studies is not expensive. Taken together the TS value and ferritin level will detect most cases of hemochromatosis.
It is important to diagnose hemochromatosis early as it can be treated easily. Fortunately with increased awareness this is now happening. While the patient with end stage hemochromatosis may save the lives of others as he (usually but sometimes she) has alerted the doctor and relatives that others may have hemochromatosis, this represents an unnecessary tragedy that fortunately is becoming rarer.