About Hemochromatosis
Hemochromatosis occurs when the body absorbs too much iron, often due to fragile red blood cells. This can happen in both hereditary and secondary forms. In hereditary hemochromatosis, the main cause is having two faulty copies of the HFE gene, which leads to iron overload. Secondary hemochromatosis can result from factors like heavy alcohol use, a family history of certain diseases, or taking iron or vitamin C supplements.
The non-modifiable risk factors of hemochromatosis, which are factors that cannot be controlled to reduce the risk of developing the condition, include:
- Genetic factors: Having two copies of a faulty HFE gene is the main risk factor for hereditary hemochromatosis.
- Family history: Having a close relative with hemochromatosis increases the chances of developing the condition.
- Ethnicity: People of Northern European descent have a higher risk of having the HFE gene mutation and developing hemochromatosis.
The modifiable risk factors of hemochromatosis, which are factors that can be controlled to reduce the risk of developing the condition, include:
- Alcohol dependency: Excessive alcohol consumption can increase the risk of secondary hemochromatosis.
- Iron or vitamin C supplements: Taking these supplements can increase iron absorption in the body.
It's important to note that while these risk factors can contribute to the development of hemochromatosis, they do not guarantee it will happen. If you have concerns about your risk or symptoms, it's best to consult with a healthcare professional for an accurate diagnosis and appropriate management.
The most common early symptoms of hemochromatosis include:
- Fatigue and weakness
- Joint pain
- Weight loss
- Abdominal pain
- Changes in skin color
As hemochromatosis progresses or reaches higher severity, additional symptoms may occur. These can include:
- Indented shape in the nails (spoon-like curve)
- Diabetes
- Skin discoloration
- Joint disease (arthropathy)
- Changes in liver function (jaundice, abdominal pain, liver enlargement)
- Heart issues (arrhythmias, congestive heart failure)
- Changes in hormone function (reduced sex drive, erectile dysfunction, absence of menstrual periods, loss of body hair)
- Increased risk of infections and liver cancer
It's important to remember that symptoms can vary from person to person and not everyone will experience all of these symptoms. If you suspect you may have hemochromatosis or are experiencing any concerning symptoms, it is recommended to consult with a healthcare professional for an accurate diagnosis and appropriate management.
To diagnose hemochromatosis, doctors commonly perform the following examinations, tests, and procedures:
- Medical history review: Doctors will gather information about your medical history to understand your symptoms and any previous diagnoses.
- Physical examination: A thorough physical examination will be conducted to look for physical signs of the condition, such as pain, swelling, or masses in the body.
- Blood tests: Blood tests, including an iron panel test, will be done to check the levels of iron and certain proteins in your blood. These tests may include serum iron, serum ferritin, total iron binding capacity, hemoglobin, and transferrin.
- Genetic testing: Genetic testing can be used to confirm a diagnosis of hemochromatosis by checking for abnormalities or mutations in the HFE gene.
- Liver biopsy: A liver biopsy may be recommended in some cases to confirm iron overload in the liver.
To determine the stage or severity of hemochromatosis, additional examinations and tests may include:
- Liver function tests: These blood tests assess how well your liver is functioning.
- Magnetic Resonance Imaging (MRI): MRI can provide detailed images of your liver to help doctors assess iron overload and monitor potential damage.
It's important to consult with your healthcare professional for an accurate diagnosis and appropriate treatment plan.
The goals of treatment for hemochromatosis are to reduce the amount of iron in the body to normal levels, manage the condition, relieve symptoms, and help patients live longer. Here are the different treatment options and how they work to achieve these goals:
- Phlebotomy: This is the most common treatment for hemochromatosis. It involves regularly removing about a pint of blood to lower the body's iron stores. By removing blood, iron levels decrease, reducing the iron overload in the body.
- Chelation therapy: If a person cannot undergo phlebotomy, they may receive chelation therapy. This involves taking medication or receiving injections that bind to excess iron and carry it out of the body. Chelation therapy is an alternative method to remove iron when phlebotomy is not possible.
- Dietary changes: Making changes to your diet can also help manage hemochromatosis. For example, eating foods low in iron can help reduce iron intake. Additionally, avoiding vitamin C supplements, raw shellfish, and high alcohol use may be recommended as these can increase iron absorption.
It's important to note that these treatments should be discussed with a healthcare professional as each individual's treatment plan may vary.
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