Most commonly, hereditary hemochromatosis is caused by a genetic change that leads to excessive iron absorption from the diet. Extra iron accumulates in the liver, heart, pancreas, joints, and other tissues. Without treatment, this can lead to cirrhosis, diabetes, heart problems, arthritis, and hormone changes. Early diagnosis and treatment can prevent or greatly reduce these complications.
Symptoms may be subtle at first—like fatigue or joint pain—and many people are diagnosed only after abnormal blood tests or family screening.
Call the office if you have known hemochromatosis and notice fatigue, joint pain, or new symptoms, or if a family member has hemochromatosis and you have questions about screening.
Seek emergency care for chest pain, shortness of breath, severe abdominal pain, confusion, or other signs of acute heart or liver failure.
Diagnosis is based on blood tests that measure iron levels and saturation, genetic testing, imaging, and sometimes liver biopsy to assess iron load and liver damage.
The primary treatment is regular removal of blood (therapeutic phlebotomy) to lower iron stores. Dietary guidance and management of complications are also important.
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