| Hemochromatosis
The Liver
The liver is the largest organ in the body. It is found high in the right upper
abdomen, behind the ribs. It is a very complex organ and has many functions.
They include:
 | Storing energy in the form of sugar (glucose)
| Storing vitamins, iron, and other minerals
| Making proteins, including blood clotting factors, to keep the body
healthy and help it grow
| Processing worn out red blood cells
| Making bile which is needed for food digestion
| Metabolizing or breaking down many medications and alcohol
| Killing germs that enter the body through the intestine |
| | | | | |
The liver shoulders a heavy work load for the body, and almost never
complains. It even has a remarkable power to regenerate itself. Still, it should
not be taken for granted. The liver is subject to illnesses that can lead to
permanent damage. One example is autoimmune hepatitis, a condition in which the
body fights against its own liver. 
What is Hemochromatosis?
Hemochromatosis is commonly known as iron overload disease. A malfunction in the
way iron is absorbed from the intestinal tract causes the body to absorb and
store too much iron. Certain vitamins and minerals are normally stored in the
liver, and iron is one of them. However, too much iron stored in the liver can
damage it. With hemochromatosis, excess iron is also deposited in other organs
and tissues, especially the heart and pancreas, causing damage to these organs,
too. This disease occurs more commonly than was originally thought. It is
estimated that hemochromatosis affects about one in every 300-400 people.
Occasionally, a secondary type of iron overload (called hemosiderosis) occurs in
people who take large amounts of iron supplements, or in people who must have
repeated blood transfusions, or who have certain other diseases. However, the
body usually returns to normal processing of iron when the excess intake is
eliminated.
 Cause
Exactly what makes the body absorb and store too much iron is not completely
understood. It is known that hemochromatosis is inherited. The gene for the
disease is a very common one; about one in every 10 people carry it. However, a
person can carry one gene and not get the disease. It is only when a person gets
a hemochromatosis gene from each parent -- a double dose -- that the disease
develops. Therefore, people who have parents, brothers, or sisters with this
disease should be closely monitored by a physician.
Symptoms
The disease can develop at any age, but symptoms usually do not occur until
middle age (between the ages of 40 and 60). Women often develop the symptoms at
a later age than men, probably because women lose significant amounts of iron
through menstruation and pregnancy. The damage to the liver and other organs
comes from long-term storage of excessive iron.
When the liver is badly damaged, scarring or hardening develops. This is
called cirrhosis. Damage to the liver may also cause jaundice (yellow color to
skin and eyes). Excess iron deposited in the pancreas causes it to stop making
insulin, and diabetes mellitus develops. Hemochromatosis can also cause
enlargement of and damage to the heart. Too much iron can be harmful to the
pituitary gland (in the brain), and this may result in a number of hormone
problems. Another common problem is the development of arthritis.
Hemochromatosis can be a perplexing disease, because there are so many symptoms
that can vary from patient to patient.
 Diagnosis
Early diagnosis is important, because treatment can prevent long-term injury and
damage to body organs. When there is a family history of hemochromatosis, and
especially if there are symptoms present, the physician will order certain blood
tests. One of the tests is a measure of iron in the blood. Another is for blood
ferritin, a protein that carries iron. With hemochromatosis, these tests will be
abnormally high. When the blood tests are repeated and the results are
consistently high, the physician usually diagnoses hemochromatosis. A liver
biopsy is then performed to determine how much iron is stored in the liver and
if there has been any liver damage. Liver biopsy is done under local anesthesia.
A slender needle is inserted through the right lower chest to extract a small
piece of liver for microscopic analysis.
Treatment
Red blood cells are rich in iron, so their removal will reduce the amount of
iron in the body. Treatment begins with one to two pints of blood being removed
each week or so, until stored iron is reduced to normal levels. It may take
several months or longer to accomplish this. After iron stores are reduced to
normal, the patient should continue to have blood drawn periodically.
Complications of hemochromatosis, such as arthritis, hormone deficiency,
heart failure, and diabetes, can be treated successfully in most cases. If these
complications have already occurred in the patient, regular treatment with blood
withdrawal should still be done. At this stage, it can prevent further harm and
may even improve some of the damage.
How Can the Patient Help?
Alcohol seems to make the problem worse, so people with hemochromatosis should
avoid alcohol or have only an occasional drink. A regular balanced diet is
recommended, but patients should avoid large quantities of iron rich foods, such
as red meats (especially liver) and iron fortified food products. Iron
supplements should never be taken. Even small amounts of iron present in some
multivitamin preparations can be harmful.
Liver Transplantation
Liver transplantation is now an accepted form of treatment for chronic, severe
liver damage. Advances in surgical techniques and the use of new drugs to
suppress rejection have improved the success rate of transplantation. The
outcome is excellent for hemochromatosis patients, and with the slow progression
of this disease, it is possible to plan elective transplant surgery. Survival
rates at transplant centers are well over 90 percent with a good quality of life
after recovery.
Summary
Hemochromatosis is a common inherited disease that causes the body to absorb and
store too much iron. People with a family history of the disease should be
tested early, because symptoms which can signal organ damage usually do not
occur until late in the disease. Hemochromatosis can be controlled, and
complications can be avoided or treated. Those patients who are diagnosed early
can look forward to a completely normal and active life.
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