Hemochromatosis is primarily an inherited (genetic) condition that allows too much iron to be absorbed and stored throughout the body. It's one of the most common genetic disorders in Canada.
1 in 9 Canadians carries the defective gene for this condition, and 1 in 300 Canadians is affected with the condition. Men and women are equally affected, although signs appear later in women.
Most people absorb only enough iron to meet their body's daily requirements, and the excess is excreted. In hemochromatosis, however, iron continues to be absorbed and stored in different organs and tissues long after the body's needs are met.
The liver is the first organ to store excess iron, after which it accumulates in the heart, pituitary gland, and elsewhere in the body. Left untreated, the resulting damage to the liver, heart, and pancreas may eventually lead to death.
In hemochromatosis, the total iron content in the body can reach as high as 50 g, compared with the normal levels of about 2.5 g in women and 3.5 g in men. It's been nicknamed "bronze diabetes" because it may be accompanied by diabetes mellitus and increased skin pigmentation (darkening of the skin).
Because women lose iron in their menstrual flow, they tend to be protected from getting hemochromatosis as long as they are having menstrual cycles. Thus it affects men earlier than women, usually when men are between 40 and 60 years of age. Rare cases have occurred in children.
Hemochromatosis is usually hereditary. It takes two defective copies of the same gene, with one defective copy inherited from each parent, to cause hemochromatosis. Siblings of those affected have a 25% chance of getting it. Both parents must be carriers of the defective gene, which means that a child of a person with hemochromatosis is less likely to have it than are the person's siblings.
However, hemochromatosis may also be caused by multiple blood transfusions and certain liver diseases, especially cirrhosis. Chronic hepatitis C infection can also result in an increased storage of iron, although a genetic cause should always be ruled out first.
Many people with hemochromatosis don't have any noticeable symptoms. The liver will begin to retain iron at birth, but it may take 20 to 30 years before symptoms appear. Early symptoms include fatigue and swelling in the joints (arthritis), particularly in the knuckles of the middle and index fingers.
In the later stages of the disease, people may experience:
If iron builds up in the heart muscle, it may cause irregular heartbeat and heart failure, leading to shortness of breath and swelling of the ankles. If it accumulates in the pituitary gland, it can cause menstrual irregularities in women and sexual dysfunction, loss of sex drive, and erectile difficulties in men.
Other specific organ-related symptoms may include joint pain, abdominal pain due to hepatic enlargement, and diabetes as a result of damage to the pancreas.
Men usually accumulate over 10 g of iron in their body before symptoms develop. In women, symptoms often show up after menopause and about 5 to 10 years later than in men. This is because menstruation and pregnancy protect them from building up too much iron. Women who reach menopause before the age of 50 often have more iron in their bodies than those who reach it after age 50.
Complications due to hemochromatosis cause the most serious problems, which is why early detection and treatment are essential. Once the condition is advanced, arthritis, cirrhosis, bronze skin pigmentation, diabetes mellitus (occurring in 65% of people with hemochromatosis), heart problems, and heart failure may appear. Pituitary failure is common and may be the cause of testicular atrophy (shrinkage of the testicles) and loss of sex drive, which occurs frequently. Early detection and treatment before the liver is damaged usually allows the person with hemochromatosis to have a normal life expectancy.
If potential life-threatening complications have occurred - such as an enlarged liver or spleen, or heart problems - life expectancy can be increased by treating these complications. Damage caused by cirrhosis of the liver, however, is irreversible.
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