Hereditary hemochromatosis, an inherited condition, causes your body to absorb too much iron from the food you eat. The excess iron is stored in your organs, especially your liver, heart and pancreas. If you have hereditary hemochromatosis, the stored iron damages these organs, leading to life-threatening conditions such as cancer, heart problems and liver disease. Signs and symptoms of hereditary hemochromatosis usually appear in midlife, although they may occur earlier. The most common complaint is joint pain, but hereditary hemochromatosis can also cause a number of other signs and symptoms, including fatigue, abdominal pain and impotence. Though not always easy to diagnose, hereditary hemochromatosis can be effectively treated by removing blood from your body to lower the level of iron.
Complications of Hemochromatosis
Untreated, hereditary hemochromatosis can lead to a number of complications, especially in your joints and in organs where excess iron tends to be stored — your liver, pancreas and heart. Many of these complications are serious and some may be life-threatening:
Causes of Hemochromatosis
Iron plays an essential role in several body functions, including helping with the formation of blood. Most people absorb about 10 percent of the iron they ingest. When these stores are adequate, the body reduces the amount of iron absorbed by the intestine to avoid accumulating excess amounts.
But if you have hereditary hemochromatosis, you may absorb as much as 30 percent of the iron you ingest. Because your body can't use or eliminate this extra iron, it's stored in the tissues of major organs, especially your liver. Eventually you may accumulate five to 20 times as much iron as normal. Over a period of years, the stored iron can severely damage many organs, leading to organ failure and chronic diseases such as cirrhosis and diabetes.
The genetics of hemochromatosis
Genes are information centers in your cells that control your body's growth, development and function. A mutation in just one gene can drastically alter the way your body works. The gene that controls the amount of iron you absorb from food is called HFE. The HFE gene has two common mutations, C282Y and H63D. In the United States, most people with hemochromatosis have inherited two copies of C282Y — one from each parent. Inheriting just one gene with the C282Y mutation means you're a carrier. You aren't likely to develop the disease yourself, although you may absorb more iron than normal. About one in every 10 Caucasians carries one gene for hemochromatosis. If both your parents are carriers, you have a 25 percent chance of inheriting two mutated genes. Complicating things is the fact that not everyone with two copies of C282Y will experience symptoms. A few people inherit one copy of C282Y and one of H63D. Of these, a small number develop symptoms of hemochromatosis. An even smaller number of people inherit two copies of H63D. Whether they're at risk of hereditary hemochromatosis is a matter of debate.
Other types of hemochromatosis
Other forms of hemochromatosis include:
Signs & Symptoms of Hemochromatosis
Some people with hereditary hemochromatosis never have symptoms. Others experience a wide range of problems. These can vary considerably from person to person and may be different for men and women.
When signs and symptoms typically appear
Although the genetic defect that causes hereditary hemochromatosis is present at birth, most people don't experience signs and symptoms until later in life — usually between the ages of 30 and 50 in men and after age 50 in women. Women are more likely to have symptoms after menopause, when they no longer lose iron with menstruation and pregnancy.
Early-stage signs and symptoms
Early signs and symptoms of hereditary hemochromatosis mimic those of many other common conditions, making it difficult to diagnose. Signs and symptoms include:
Advanced-stage signs and symptoms
In later stages of the disease, you may develop serious conditions such as:
Diagnosis of Hemochromatosis
Hereditary hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue can result from a number of conditions that are more common than hemochromatosis.
At any stage — even before symptoms appear — doctors can detect iron overload with two blood tests:
Serum transferrin saturation and serum ferritin tests aren't a part of routine medical testing. Public health officials recommend that you be tested for hemochromatosis if you have a parent, child or sibling with the disease, or if you have any of the following signs and symptoms:
Blood tests may also suggest iron overload if you abuse alcohol, have had multiple blood transfusions or have had hepatitis C. To confirm a diagnosis of hereditary hemochromatosis, your doctor may suggest other tests, including:
Other doctors, as well as the Centers for Disease Control and Prevention, recommend this type of testing only for adult family members of someone with hemochromatosis. If you're considering genetic testing for hemochromatosis, discuss the pros and cons with your doctor or a genetic counselor.
Treatments of Hemochromatosis
Doctors can treat hereditary hemochromatosis safely and effectively by removing blood from your body (phlebotomy) on a regular basis, just as if you were donating blood. But in this case, the goal is to reduce your iron levels to normal. The amount of blood drawn depends on your age, your overall health and the severity of iron overload. Some people need many phlebotomies to achieve normal iron levels.
What you can expect from treatment
Treating hereditary hemochromatosis before damage to your organs has occurred prevents serious complications such as liver disease, heart disease and diabetes. If you already have one of these conditions, phlebotomy may slow the progression of the disease, and in some cases even reverse it. People with cirrhosis are often monitored for liver cancer with an abdominal ultrasound and an alpha-fetoprotein blood test every six months.
When to seek Medical Advice
See your doctor if you experience any of the signs and symptoms of hereditary hemochromatosis. And if you're age 25 or older and have an immediate family member who has hemochromatosis, see your doctor to be genetically tested to see if you have the gene defects that put you at risk of hemochromatosis. Monitoring and treatment can help you avoid complications.