Iron is necessary for many cells in the human body, especially red blood cell and muscle cells. However, too much iron can cause damage. Hereditary hemochromatosis is a condition causing abnormal accumulation of iron in the body above and beyond what is necessary. The extra iron gets deposited in the liver and other organs, where it can cause severe damage. While this disorder does not only affect the liver, it may be diagnosed when a liver disorder is being investigated.
Hereditary hemochromatosis is passed down from parent to child. It is what is called an “autosomal recessive” condition, which means that a person needs to get the gene from both parents. Even then the condition may not always develop.
People with hereditary hemochromatosis have genes that alter the normal function of hormones and proteins that regulate what happens to iron in the body. There are four main types of this condition, with different abnormal genes. The most common genetic defect is found most frequently in white men.
When iron regulation fails, it accumulates in the liver, as well as the heart, endocrine glands and other areas.
As many as 90% of people with two copies of the abnormal gene do not have symptoms of hemochromatosis. Additionally, in those who have it, many years may go by before there is enough iron deposited to cause damage, especially in females who lose iron every month when they menstruate.
The earliest symptoms may be vague, such as fatigue, joint pain, and impotence. In addition to hepatitis which can progress to cirrhosis, people with this disease can develop diabetes, excess skin pigmentation, weakness, low thyroid function, and symptomatic heart damage.
Liver symptoms can be those of hepatitis, or later, cirrhosis, including abdominal pain, loss of appetite, abdominal swelling, and evidence of liver failure. Liver cancer can develop in people with cirrhosis.
There are blood tests measuring iron and the substances that transport it. These tests will show specific abnormalities when a person has hemochromatosis. Genetic tests can identify the inherited type.
If there is evidence of liver inflammation, scarring, or failure from physical examination or blood tests, this must be evaluated. A liver biopsy may need to be done to see how much iron has accumulated and to diagnose cirrhosis. In addition to blood tests, imaging studies may be done. There is a kind of MRI that can measure iron content in the liver and may replace a liver biopsy.
People who have hemochromatosis in their immediate family should be screened early. Those who test positive for the genes but who do not have high iron levels or symptoms need to be followed and treated if evidence of iron overload appears.
Removing blood from the body lowers iron content. Treatment of hemochromatosis is regular removal of blood, called phlebotomy.
How often a person needs blood removed depends on their exact condition and how much extra iron they have. It is usually done weekly until iron measurements are normal. After that, it is done periodically to maintain a normal iron level.
This will prevent worsening of liver disease, can even reverse liver scarring and cirrhosis, and increase the length of a person’s life. It can also prevent damage to other organs. It does not prevent the occurrence of primary liver cancer in affected individuals.
It is important for patients to moderate alcohol intake and change lifestyle factors that might further damage the liver. Those with cirrhosis must be monitored for the development of liver cancer.