Hemochromatosis Testing

It is no secret that diagnosing fibromyalgia has been a challenging and often difficult practice. With the modern tools available today, the task has become less daunting, although, it can still take some time to get the right answers. Not all musculoskeletal pain is caused by fibromyalgia and for years it has been confused with hypothyroidism, osteoarthritis, irritable bowel syndrome, depression and chronic fatigue syndrome as well as many other disorders.

Hemochromatosis - Too Much Iron in the Blood

Hemochromatosis, yet another of the diseases often confused with fibromyalgia, is a very common disorder and is also often under-diagnosed. Perhaps because symptoms generally do not appear until mid-adult life, it can be confused with such disorders as arthritis, diabetes and even heart disease. The symptoms, when they do appear, can be easily confused with fibromyalgia since those with the condition often experience lethargy, muscle pain and mental confusion. Hemochromatosis is the overproduction of iron in the blood which results in iron overload. Symptoms are similar to fibromyalgia, however, the disease results in physiological problems which are unrelated, such as cirrhosis of the liver.

Diagnostic Screening to Find the Cause

Using diagnostic screening tests, doctors can often find the hemochromatosis gene before symptoms appear, sparing their patients years of discomfort and unnecessary treatments. Two such tests are trasferrin saturation, which measures the percentage of transferrin (a protein that carries iron in the blood) currently being carried in the blood; and the serum ferritin test, which is an indirect measure of the amount of iron stored in the liver.

A fasting transferrin saturation of more than 45 percent, on at least two different testing occasions, is considered a sign of iron overload and may suggest hemochromatosis. The serum ferritin test is an indirect measure of iron stored in the liver. The normal range for serum ferritin levels for men and post-menopausal women is up to 300ug/L and 200ug/L for premenopausal women. Individuals with advanced hemochromatosis may have serum ferritin levels as high as 15,000ug/L. Since there are other causes of elevated serum ferritin levels, it may be necessary to have genetic testing done for hemochromatosis in order to help identify the reason for the increase in iron storage.

When All Else Fails - Liver Biopsy

Doctors may perform a liver biopsy - removal of a small piece of the liver - in people with high levels of serum ferritin, in order to gain a clearer picture of liver damage and to distinguish between hemochromatosis and other liver diseases. Once the "gold standard" for diagnosis of hemochromatosis, liver biopsy is only done these days when someone with an apparent iron overload has a negative genetic test result and no evidence of the disease in their family. On the other hand, a liver biopsy is the only method of detecting cirrhosis, which increases the risk of liver cancer and affects the lifespan of someone with hemochromatosis.

It May Not Be Fibro

If you, or someone you know, are exhibiting symptoms which may look like fibromyalgia, ask for the blood screening tests to determine whether you are storing more iron than your body needs. You may be dealing with hemochromatosis and treatment is readily available.


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