Signs and Symptoms of Hemochromatosis

Primary hemochromatosis and secondary hemochromatosis are progressive disorders, and symptoms usually develop gradually over time. In some cases, the condition is asymptomatic (i.e., does not cause symptoms). In men, symptoms commonly develop between the ages of 30 and 50, and in women, the average age of symptom onset is 50.

The liver usually is the first organ affected by iron overload disease. In more than 95% of cases, the liver is enlarged (called hepatomegaly) in patients who experience symptoms.

In most cases, hemochromatosis affects the liver, pancreas, heart, and joints. Common symptoms include the following:

  • Abdominal pain
  • Changes in skin color (e.g., bronzed appearance, increased pigmentation)
  • Diabetes (high blood sugar levels; may cause excessive thirst, urination, and itching)
  • Early menopause (in women)
  • Fatigue
  • Joint pain (often affects the hands first and then progresses to the wrists, ankles, knees, and hips)
  • Loss of sex drive (libido)
  • Weakness
  • Weight loss

Juvenile hemochromatosis often causes heart disease and liver disease in patients between the ages of 15 and 30. Neonatal hemochromatosis, which is rare, causes severe iron overload in unborn babies and newborns and usually results in death.

Complications are common. As the disorder progresses, signs and symptoms include the following:

  • Arthritis
  • Cardiomyopathy (damage to the heart muscle; e.g., myocarditis)
  • Congestive heart failure (CHF)
  • Enlarged spleen (splenomegaly)
  • Hypogonadism (condition that causes a deficiency in sex hormones and germ cells and may lead to impotence, testicular atrophy, hair loss, and abnormal breast enlargement in men, and absence of menstruation in women)
  • Irregular heart rate (arrhythmia)
  • Liver disease (e.g., cirrhosis, jaundice, liver failure, liver cancer)

Hemochromatosis also can affect the adrenal, thyroid, and parathyroid glands, resulting in adrenal insufficiency, hypothyroidism, or hypoparathyroidism. If the adrenal gland is affected, symptoms can include fatigue, weakness, weight loss, and low blood pressure. Hypothyroidism may result in weight gain, dry skin, low blood pressure, and slow heart rate. Hypoparathyroidism can cause low calcium blood levels, muscle cramps, and tingling of the lips and fingers.

Publication Review By: Stanley J. Swierzewski, III, M.D.

Published: 29 Feb 2008

Last Modified: 07 Sep 2010