Hemochromatosis (patient information)
For the WikiDoc page for this topic, click here
| Hemochromatosis | |
| MedlinePlus | 000327 |
|---|---|
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Assistant Editor-in-Chief: Ethan Leeman
Overview
Hemochromatosis occurs when the body absorbs too much iron from foods (and other sources such as vitamins containing iron). This disease causes extra iron to gradually build up in the body’s tissues and organs, a term called iron overload. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart and pancreas. If this iron buildup is untreated, it can, over many years, damage the body’s organs.
Secondary hemochromatosis is caused by anemia, alcoholism, and other disorders. Juvenile hemochromatosis and neonatal hemochromatosis are two additional forms of the disease. Juvenile hemochromatosis leads to severe iron overload and liver and heart disease in adolescents and young adults between the ages of 15 and 30. The neonatal form causes rapid iron buildup in a baby’s liver that can lead to death.
What are the symptoms of hemochromatosis?
- Hemochromatosis can have a variety of symptoms and symptoms may be different for men and women. Hemochromatosis can be hard to identify because early symptoms are similar to those of many other common diseases.
Although most people reach middle-age before they have symptoms of hemochromatosis, some people may have symptoms at a younger age. The symptoms depend on which organs are being affected by the iron buildup.
- Early indications of hemochromatosis are often like those of other diseases and include the following symptoms:
- Fatigue (feeling very tired)
- Weakness
- Weight loss
- Abdominal pain
- Joint pain
- As iron builds up in the body organs, hemochromatosis may also produce the following symptoms:
- Loss of menstrual periods or early menopause
- Loss of sex drive (libido) or impotence
- Loss of body hair
- Shortness of breath
- Although not a physical symptom, another possible indication of hemochromatosis is having an elevated liver enzyme test.
- As the disease progresses, hemochromatosis may cause the following more serious problems:
- Arthritis
- Liver problems, such as cirrhosis (or scarring of the liver) and liver cancer
- High blood sugar and diabetes
- Abdominal pain that does not go away
- Severe fatigue (feeling extremely tired and having a lack of energy)
- Heart problems (such as a heart beat that is not regular)
- Heart failure (such as the heart not pumping blood as well as it did previously)
- Gray-colored or bronze-colored skin
What causes hemochromatosis?
The amount of iron the human body absorbs is controlled by many genes. Genes can sometimes change (or mutate) in ways that keep them from working properly.
Hereditary hemochromatosis can occur when a person inherits two mutated copies of a gene called the HFE gene — one from each parent. Men and women have the same chance of inheriting two copies of this gene.
Not everyone who is born with two copies of the mutated HFE gene develops the disease. Scientists do not know what percentage of people who have two copies of the mutated HFE gene develop the disease. Some studies have shown that as few as 1 in 100 people will develop symptoms. Other studies have shown that as many as 50 in 100 people may develop symptoms. A person with only one copy of the mutated HFE gene is usually healthy and is said to be a “carrier” of the genetic condition. Although a carrier usually does not have hemochromatosis, if both a mother and father are carriers, a child may inherit two copies of the mutated gene, one from each parent.
Who is at highest risk?
People who inherit the HFE gene mutation from both parents are at the greatest risk for developing hemochromatosis. Although both men and women can inherit the gene defect, men are more likely to be diagnosed with the effects of hemochromatosis than women. Other factors that increase risk are:
- Ethnic Background: White people of northern European descent (for example, families from England, Ireland, Scotland, Denmark, France, and Scandinavia) have a higher chance of having the HFE gene mutation.
- Family History: People with a close relative (grandparent, mother, father, sibling, niece, nephew) who has hemochromatosis have a higher chance of having the HFE gene mutation.
There are other factors which influence the rate at which iron is absorbed by the body:
- Dietary supplements: Taking iron supplements or multivitamins with iron can speed up the rate at which iron builds up in the body. Persons with hemochromatosis should not take pills containing iron. Eating foods that contain iron is fine. Taking vitamin C supplements may cause the body to absorb more iron. Persons with hemochromatosis should not take pills with more than 500 milligrams of vitamin C per day. Eating foods that contain vitamin C is fine.
- Blood loss: Losing iron by giving blood and losing iron through menstruation and unrecognized bleeding may slow the start of hemochromatosis. Therefore, men at risk for hemochromatosis usually develop the disease and its symptoms at a younger age than women who are at risk.
When to seek medical care?
If you think you have symptoms like those of hemochromatosis or if you have a close blood relative who has hemochromatosis, you should ask your health care provider to check the amount of iron in your blood.
Diagnosis
- Most regular medical check-ups do not include tests to measure the amount of iron in the body. For that reason, hemochromatosis is often not identified in people who have the disease.
- If you think you have symptoms like those of hemochromatosis, (fatigue, weakness, abdominal pain and/or joint pain), or if you have a close relative who has hemochromatosis, you should ask your health care provider to check the amount of iron in your blood.
- Early detection of iron buildup is important because prompt diagnosis and treatment of hemochromatosis can help prevent the more serious problems caused by the disease.
- To see if you might be at risk for hemochromatosis, a doctor will take a complete medical history and give you a physical examination. Having information about your family’s health history is also helpful.
- To check the amount of iron in your body, a doctor can use two simple blood tests:
- Transferrin saturation (TS) test
- Serum ferritin (SF) test
- A liver biopsy may be needed, in which case a tiny piece of liver tissue is removed and examined with a microscope. The biopsy will show how much iron has accumulated in the liver and whether the liver is damaged.
Treatment options
- Hemochromatosis can be treated simply and successfully. The treatment, called phlebotomy, removes blood to lower the amount of iron in the body. The treatment is similar to giving blood and is the best way to treat the disease.
- If phlebotomy treatment is started before too much iron has built up in the body, it can stop many of the serious problems of hemochromatosis.
- If you have no organ damage and get proper care, you can expect to live a normal life.
- If you already have organ damage, treatment can stop additional damage, but it cannot reverse damage that has already started.
- Even if you have developed serious problems, treatment can lessen many symptoms and improve your quality of life.
- Important things to know about phlebotomy treatment for hemochromatosis:
- Drink plenty of water, milk, or fruit juices both before and after the treatment.
- Avoid vigorous physical activity for 24 hours after your phlebotomy treatment.
- Be sure to keep your phlebotomy appointments as directed by your doctor.
- At the beginning, your doctor will take about a pint every 1 or 2 weeks to lower iron levels. Once the level has reached a normal level, the treatment then simply maintains that level, and your doctor will take about a 3-4 pints a year for men, 1-2 pints a year for women. Older people may not need the maintenance treatment, but should still have their iron levels checked.
Where to find medical care for hemochromatosis?
Directions to Hospitals Treating hemochromatosis
What to expect (Outlook/Prognosis)?
If the disease is recognized before any organ damage has occurred, one can expect to live a normal, healthy life. If organ damage has occurred, the prognosis depends on how damage the organs are.