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:
- abdominal pain or tenderness
- abdominal swelling
- bleeding from dilated veins in the esophagus
- bronze- or grey-coloured skin
- erectile difficulties
- excessive hunger and thirst
- frequent urination
- yellowing of the skin and eyes (jaundice)
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.