Dr. med. J. Reichen
Dept. of Clinical Pharmacology, University of Berne
1. Prevalence and cause:
Hemochromatosis is the most prevalent genetic disease
of adults. One in 10 carries the faulty gene and 1/400 will get the disease.
Based on this gene frequency we have to assume that in the Swiss population
there are 17'500 - 20'000 patients affected. The main mutation in the gene,
now called HFE, was described in 1996 by Feder and colleagues. The mutation
leads to uncontrolled absorption of iron and deposition of this potentially
toxic heavy metal in different organs.
2. What are the signs and symptoms?
The first symptoms can originate from the liver, the
articulations, the pancreas, the heart and endocrine glands. This first
signs can be very subtle and the diagnosis is missed if the treating physician
does not think about the possibility of hemochromatosis.
Fatigue, dull aches or pains in the upper belly
Inflammation, pain and swelling
Diabetes (thirst, increased urination)
Irregular heart beat, heart failure
3. How is the hemochromatosis diagnosed?
Hemochromatosis can be looked for with a simple test,
namely determination of iron and iron binding capacity in the blood. Many
investigations have demonstrated that screening for the disease is cost-effective.
If iron is elevated, one should perform molecular genetic analysis. This
test can identify 85 % of patients as being affected. Under certain circumstances,
a liver biopsy has to be performed to determine the stage of the disease
and the degree of iron overload. Once a patient has been found to suffer
from genetic hemochromatosis it is very important that the family of the
patient is thoroughly investigated. If the disease is found early, all
damage to the different organs can be avoided.
4. What are the consequences of untreated hemochromatosis?
If untreated, the same organs as indicated in the
first table are affected. This can lead to the following medical problems:
||Liver cirrhosis (scarring of the liver). This leads
to different severe complications:
Internal bleeding (from esophageal varices)
Ascites (water on the belly)
Cancer of the liver
||Diabetes with all its consequences
Irregular heart beat with a risk of sudden death
5. Can hemochromatosis be treated?
The excess iron is removed with regular phlebotomies
(removing blood through a vein similar to what is done when donating blood).
This has to be performed weekly to biweekly until all the excess iron has
been removed. Then, maintenance therapy (2 - 6 phlebotomies/year) is necessary.
For patients who have no iron overload yet, regular donation of blood will
prevent iron accumulation. The possibility of a relatively non-invasive,
cheap and effective treatment emphasizes the need for early diagnosis.
August 25th, 1998
RevisedFebruary 1st 2002