domingo, 28 de octubre de 2018

Hereditary Hemochromatosis | Features | CDC

Hereditary Hemochromatosis | Features | CDC

Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People



Hereditary Hemochromatosis

Elderly parents with adult children



Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems. Early diagnosis and treatment is critical to prevent complications from the disorder. If you have a family health history of hemochromatosis, talk to your doctor about testing for hereditary hemochromatosis.

What is hemochromatosis?

Hemochromatosis is a disorder in which the body can build up too much iron in the skin, heart, liver, pancreas, pituitary gland, and joints. Too much iron is toxic to the body and over time the high levels of iron can damage tissues and organs and lead to
In the United States, about 1 in 300 non-Hispanic whites has hereditary hemochromatosis, with lower rates among other races and ethnicities. Many people with hereditary hemochromatosis don’t know they have it. Early symptoms, such as feeling tired or weak, are common and can cause hemochromatosis to be confused with a variety of other diseases. Most people with hereditary hemochromatosis never develop symptoms or complications. Men are more likely to develop complications and often at an earlier age. An estimated 9% (about 1 in 10) of men with hereditary hemochromatosis will develop severe liver disease.

How do you know if you have hereditary hemochromatosis?

A blood test can be used to screen people who may have hemochromatosis by measuring how much iron is in their blood. Affected people with or without a known family history of hemochromatosis can be diagnosed through blood tests for iron followed by genetic testing if they are symptomatic or have complications. Symptoms of hemochromatosis include
  • Feeling of tiredness or weakness,
  • Weight loss,
  • Joint pain,
  • Bronze or grey skin color,
  • Abdominal pain, and
  • Loss of sex drive.
Hereditary hemochromatosis is most commonly caused by certain variants in the HFE gene. If you inherit two of these variants, one from each parent, you have hereditary hemochromatosis and are at risk for developing high iron levels. If you have a family member, especially a sibling, who is known to have hereditary hemochromatosis, talk to your doctor about genetic testing.

How can you prevent complications from hereditary hemochromatosis?

If you or your family members have hereditary hemochromatosis, your doctor may suggest ways to lower the amount of iron in your body. The earlier hemochromatosis is diagnosed, the less likely you are to develop serious complications—many of which can cause permanent problems. If you are diagnosed with hemochromatosis, regularly scheduled blood removal is the most effective way to lower the amount of iron in your body. Your doctor may also recommend
  • Annual blood tests to check your iron levels;
  • Liver biopsy to check for cirrhosis;
  • Iron chelation therapy, if you cannot have blood removed, which involves medicine taken either orally or injected to lower the amount of iron in your body;
  • Dietary changes, such as avoiding multivitamins, vitamin C supplements, and iron supplements, which can increase iron throughout your body;
  • No alcohol use (because alcohol increases the risk of liver damage); and
  • Steps to prevent infections, including not eating uncooked fish and shellfish and getting recommended vaccinations, including those against hepatitis A and B.


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