Hemochromatosis is a metabolic disorder in which your organs accumulate excess iron, leading to organ damage. Hereditary hemochromatosis (HH) affects one in 300 people in the United States. However, it often goes undiagnosed, partially due to its nonspecific symptoms.
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Symptoms of hemochromatosis usually appear after age 40, once significant iron has accumulated in the body. Symptoms may appear earlier in women.
Many patients with hemochromatosis are asymptomatic, meaning they do not exhibit any symptoms. The disease is usually diagnosed as a result of family screening, or after a blood test indicates a high level of iron. Early signs are nonspecific and may include:
More specific symptoms occur when the iron accumulates in particular organs:
Iron deposits in the heart muscle may cause an arrhythmia, or the muscle may degenerate.
Iron deposits in the liver can predispose a patient to fibrosis, cirrhosis and liver cancer.
Patients with hemochromatosis are at increased risk for diabetes and pancreatic cancer. Arthritis also can develop as a result of the excess iron.
Hemochromatosis Diagnosis at Johns Hopkins
A diagnosis of hemochromatosis begins with a complete physical examination during which you describe your symptoms and medical history. Other tests include:
Your doctor will order a blood test to check for a high concentration of iron. Blood tests include:
Serum ferritin . Ferritin is a protein inside your cells that stores iron. A high level may indicate hemochromatosis.
Serum iron tests how much iron is in your blood.
Transferrin saturationtest (TS) is another type of blood test that measures the amount of iron in your blood.
A liver biopsy offers a definitive diagnosis. Your doctor may recommend a biopsy if you have elevated iron levels in your blood, especially if your symptoms are consistent with hereditary hemochromatosis. During a biopsy:
You receive local anesthesia.
Your doctor removes some liver tissue.
The tissue is sent to a pathology lab for analysis to determine whether or not you have hemochromatosis.
Because hemochromatosis symptoms are nonspecific, patients who are considered at risk for this disease should be screened regularly. This way, if the disease is present, doctors can find and treat it in its early stages.
You should be screened if you have a first-degree relative with HH and you are between 18 and 30 years of age. The risk of organ damage increases the longer it is untreated. The initial testing will most likely include a number of blood tests.
Hemochromatosis Treatment at Johns Hopkins
Once hemochromatosis is diagnosed, treatment can begin immediately. A phlebotomy will be performed to remove the iron from your body. Learn more about treatment for hemochromatosis at Johns Hopkins.