Hemochromatosis

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Updated on 6/4/09

The clinical symptoms of hemochromatosis usually appear after significant iron accumulation—generally after the age of 40. Symptoms appear earlier in males than in females due to the loss of iron through menstruation in women.

Many patients with hemochromatosis have no symptoms at all and are diagnosed only as a result of family screening or after blood tests suggest increased iron in their organs.

Early signs of the disease can include:

  • Joint pain
  • Weakness
  • Fatigue
  • Abnormal skin pigmentation, making the skin look bronze or gray
  • Hair loss
  • Impotence
  • Vertigo
  • Memory loss
  • Loss of sex drive

There are many conditions associated with hemochromatosis:

  • Arthritis develops in 25 to 30 percent of patients and initially involves the knuckles. Progressive arthritis involving many joints in the hips, knees, and spine may follow.
  • Hypogonadism, or reduced production of sex hormones, results from iron deposition in the pituitary gland or the testes. It can cause impotence in males and suppress menstruation in females.
  • Iron deposition in heart muscle may lead to arrhythmias or degeneration of the muscle itself, resulting in a condition called cardiomyopathy.
  • Iron deposition in the liver leads to an elevation in liver enzymes, which may be identified with blood tests. The liver itself may be enlarged enough to cause pain in the upper-right abdomen. There is an increased risk of liver cancer and cirrhosis.
  • Patients with hemochromatosis are also at increased risk for diabetes, caused by damage to the pancreas, and pancreatic cancer.

Most of the outward signs of hemochromatosis are the result of iron deposition in the organs. Exceptions include the bronze color of a patient's skin—which is due to increased melanin deposition—and arthritis, which results from the accumulation of calcium pyrophosphate crystals in the joints, or pseudo-gout.

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