Hemochromatosis is a metabolic disease in which iron is absorbed from the digestive tract and deposited in tissues and organs throughout the body, where it causes damage. This can create life-threatening complications in the liver, heart, and pancreas.
- Hemochromatosis causes organs to store excess iron. This can lead to exhaustion, joint pain, weakness, and more serious conditions like cirrhosis and diabetes.
- Hemochromatosis is often an inherited condition, which means it is caused by a genetic mutation passed down from parents to children. Both parents must pass it down.
- Common ways to treat hemochromatosis include removing blood regularly (phlebotomy) and taking medications that help the body expel excess iron.
Hemochromatosis is usually caused by a genetic mutation to the HFE gene, which controls how much iron the body absorbs from food. This mutation is inherited, which means it’s passed from parents to their children. If both parents possess a mutated HFE gene, their children have about a 70 percent chance of developing hemochromatosis. If only one parent passes down a copy of the mutation, their children will not develop the condition.
Although hemochromatosis is present at birth, symptoms do not usually appear until later in life. For men, symptoms do not typically develop until between the ages of 50 and 60, while women do not develop any symptoms until after age 60.
The following are some of the most common early symptoms of hemochromatosis:
- Enlarged spleen
- Hair loss
- Joint pain
Later in life, more serious symptoms of hemochromatosis may include:
- Abnormal heart rhythm (arrhythmias)
- Erectile dysfunction
- Heart failure
- Liver failure
- Loss of menstruation
- Loss of sex drive
- Skin discoloration (yellow or bronze)
Hemochromatosis can be difficult to diagnose before more serious symptoms develop. Because early signs of the disease can easily be mistaken for other conditions, the only way to detect it is to test for elevated levels of iron. The two primary types of blood tests that do this are:
- Serum Ferritin: Measures the amount of iron stored in the liver.
- Serum Transferrin Saturation: Measures the percentage of iron bound to transferrin, a protein that carries iron throughout the body.
The following are some other common ways of diagnosing hemochromatosis:
- Liver Biopsy: This is a surgical procedure that removes a tiny portion of the liver so that doctors can examine it under a microscope. Doing this can help them identify cirrhosis or other signs of liver damage, as well as test for elevated levels of iron.
- Liver Function Tests: These tests measure how well the liver is performing and help identify potential liver damage.
- Genetic Test: This will test for mutations in the HFE gene, which controls how much iron the body absorbs from food.
- MRI: This is an imaging test that allows doctors to detect how much excess iron is in the liver.
The most common treatment for hemochromatosis is the regular removal of blood (phlebotomy). How often this is done will depend on a patient’s age, overall health, and the amount of iron that is in their blood. Severe cases may require a pint of blood to be removed once or twice a week, while more moderate cases may only require removal once every few months. Phlebotomy can help alleviate symptoms such as fatigue, abdominal pain, and skin changes, but will not reverse damage such as cirrhosis or alleviate joint pain.
Patients who cannot have phlebotomies can undergo chelation therapy. This involves taking a medication (either orally or intravenously) that binds to excess iron so that the body can dispose of it naturally, through urine or bowel movements.
Other ways to reduce complications from hemochromatosis include:
- Avoiding Alcohol: Alcohol weakens the liver and makes it more susceptible to damage. Anyone diagnosed with hemochromatosis should stop drinking alcohol entirely.
- Avoiding Iron and Vitamin C Supplements: Both of these can increase the amount of iron in the body.
The general outlook for patients who have hemochromatosis will depend on the severity of their disease and when it is diagnosed.
When hemochromatosis is detected early enough and has not caused any additional damage to organs, patients can expect to lead normal, healthy lives. After reducing their excess iron, they’ll simply need to remove blood once every few months or take chelation medication regularly.
However, if hemochromatosis is detected too late to avoid organ damage, it may lead to serious complications, such as cirrhosis or liver cancer. Frequent screenings will be necessary in these cases to maintain good health.
Columbia doctors and medical staff can help diagnose hemochromatosis, manage and alleviate its symptoms and complications, and reduce excess iron levels.
Call us at (877) LIVER MD/ (877) 548-3763 or use our online form to schedule an appointment.