What Is Hemochromatosis?

Hemochromatosis is the medical term for iron overload. Having adequate iron levels in the body is vital; however, sometimes, the body can store too much iron, which can cause serious medical complications. The condition is often genetic, so there are no preventive measures for hemochromatosis, but if it is detected early, it can be treated before serious complications arise. 

What Is Iron?

Iron is a mineral found in food, or it can be added as a supplement if iron levels are too low. Iron helps the body in many ways, such as producing hormones, making red blood cells, and aiding hemoglobin with carrying oxygen. It is the intestines’ job to absorb iron, but in patients with hemochromatosis, too much iron is absorbed, and it begins to build up in vital organs, such as the pancreas, liver, and heart. 

What Happens When Iron Levels Are Too High?

Iron overload creates toxicity in your pancreas, liver, and heart, and it can be a contributing factor to the development of many conditions, some of which are life-threatening. If hemochromatosis is not treated, it can result in death. In the liver, iron overload can lead to:

• Liver failure
• Liver cancer
• Cirrhosis (scarring of the liver)
• Enlarged liver 

If too much iron is stored in the heart, it can cause:

• Heart failure
• Arrhythmia (irregular heartbeat)

Other conditions iron overload contributes to include:

• The pituitary gland and thyroid problems
• Arthritis
• Diabetes
• Erectile dysfunction (men)
• Early menopause (women)
• Bronze or grey discolored skin

What Causes Hemochromatosis?

There are two types of hemochromatosis, and its cause depends on the type diagnosed. Primary hemochromatosis is genetic, stemming from problems in the DNA of both parents. 

Secondary hemochromatosis is caused either by other conditions and diseases or from receiving medical treatments. Examples of secondary hemochromatosis include complications stemming from:

• Blood transfusions 
• Iron supplements
• Anemia (low red blood cell count)
• Kidney dialysis 
• Hepatitis C infection
• Fatty liver disease

Hemochromatosis is more common in Caucasians of Northern European descent. It is less common in those of African American, Asian, Hispanic, or American Indian descent. It is also more common in men than women, as women lose iron through menstruation or by giving birth. Also, hemochromatosis develops over a long period of time, so it is more common in older adults. A family history of liver disease, arthritis, diabetes, erectile dysfunction, and heart attacks can increase the risk of developing hemochromatosis.

What Are Hemochromatosis Symptoms?

Some people with hemochromatosis are asymptomatic, while others develop symptoms, such as:

• Weakness
• Irregular heartbeat or heart flutters
• Unexplained fatigue 
• Joint pain
• Unintended weight loss
• Abdominal pain
• Pain in the knuckles 

These symptoms will usually present in middle-aged adults. If you experience these symptoms for more than a day or two, let your doctor know so you can be evaluated.

How Is Hemochromatosis Diagnosed?

Hemochromatosis is diagnosed through patient consultation and diagnostic tests. Your physician may ask you questions about your family history of iron overload, if you take iron or vitamin C supplements, and may check your heart for irregularities. Depending on your particular case, your physician may order diagnostic tests in order to confirm or deny a hemochromatosis diagnosis. These include:

• Blood tests can detect iron levels in organs and in blood
• Genetic testing to see if you have primary hemochromatosis
• MRI to get a more detailed view of your organs
• Liver biopsy to check for liver problems 

How Is Hemochromatosis Treated?

If your physician has confirmed a hemochromatosis diagnosis, it requires medical intervention. The first line of treatment for hemochromatosis is dietary changes. Your doctor will advise you to stop iron and vitamin C supplements, as vitamin C boosts iron absorption. You will also need to avoid foods high in iron and abstain from or avoid alcohol, as it can further damage a liver compromised by hemochromatosis. Other treatments include iron chelation therapy and therapeutic phlebotomy:

• Iron chelation therapy is a medication that removes the extra iron that’s stored in the body. It is either performed by taking a capsule by mouth at home or via injection at your physician’s office. 
• Therapeutic phlebotomy uses a tube and needle to extract blood from the body and the iron it contains. You will have to undergo blood tests to check for iron levels. Therapeutic phlebotomy is performed frequently, and your iron levels will be closely monitored. 

What Is the Outlook for Patients with Hemochromatosis?

The success of treatment and the outlook for patients with hemochromatosis depends on when it was diagnosed. If it is discovered early, hemochromatosis is a manageable disease. In addition, sometimes organ damage is reversible, particularly in the liver. There is no cure for hemochromatosis, but it is managed with treatment. When you are first diagnosed, you will have blood levels checked once a week, but the testing frequency will diminish over time as long as it is working. If hemochromatosis is not discovered early or treated, it can develop into more serious conditions like liver and heart failure.