Hemochromatosis

Hemochromatosis is a metabolic disease in which excess iron is absorbed from the digestive tract and deposited in tissues and organs through the body, where it causes damage. Complications in the liver, heart, and pancreas can be life threatening.

Causes of Hemochromotosis

Hemochromotosis is most often caused by a genetic mutation to the HFE gene. Individuals who receive the genetic mutation from both parents have a 70% chance of developing the disease. People who inherit one mutated gene do not develop hemochromotosis but carry the disease and may pass it on to their children.

Symptoms of Hemochromotosis

Hemochromotosis causes excess iron to accumulate in the joints and organs, where it may cause serious complications including:

  • Cirrhosis and abnormal functioning of the liver
  • Diabetes (from damage to the pancreas)
  • Congestive heart failure, abnormal heart rhythm (arrhythmias), and  heart failure
  • Disruption of the reproductive system including erectile dysfunction, loss of menstruation, loss of sex drive
  • Skin changes (bronze or yellowing tint to the skin) resulting from deposits of iron in the skin

Symptoms often do not appear until age 50 to 60 in men, and after age 60 in women. Other common symptoms include:

  • Lethargy
  • Weakness
  • Irritability
  • Joint pain
  • Depression
  • Hair loss
  • Infection
  • Enlarged spleen

Diagnosing Hemochromotosis

Diagnosis may require testing including:

  • Blood testing for iron overload, including tests to measure iron levels in the blood and in the liver
  • Liver function tests
  • MRI
  • Genetic testing
  • Liver biopsy

Treatment for Hemochromotosis

Treatments for hemochromotosis will depend on age, overall health, severity of disease, and other factors. Treatments can alleviate symptoms such as fatigue, abdominal pain, and skin changes, but will not reverse damage such as cirrhosis or end joint pain. Primary therapies include:

  • Phlebotomy: periodic removal of the blood from the body. Depending on age and severity of disease, patients may initially have a pint of blood removed once or twice per week. Once iron levels are normalized, blood may be removed monthly or every three to four months.
  • Chelation therapy: Medication that binds to the excess iron and removes it from the body. Chelation medications may be administered via pill or intravenously.

Supplemental measures include:

  • Avoidance of iron and vitamin C supplements
  • Avoidance of alcohol
  • Treatment for associated complications