Hemochromatosis: Causes, Symptoms, Diagnosis, Treatment, and Prevention
A condition known as hemochromatosis occurs when the body absorbs and stores too much iron. The excess iron can cause damage to the liver, heart, and pancreas. This blog post discusses the causes, symptoms, diagnosis, treatment, and prevention of hemochromatosis, which can be inherited or acquired through other medical conditions or treatments.
Causes of Hemochromatosis
There are two main types of hemochromatosis: primary and secondary.
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A genetic mutation causes primary hemochromatosis, which affects the regulation of iron absorption in the intestines. Primary hemochromatosis is caused by mutations of the HFE gene, which controls how much iron is absorbed from food. Hemochromatosis is more likely to develop in people who inherit two copies of the mutated HFE gene (one from each parent). It is important to note, however, that not everyone with genetic mutations will develop symptoms or complications of the disease.
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The condition is secondary to other medical conditions or treatments that increase the amount of iron in the body, including chronic blood transfusions, iron injections or pills, liver disease, kidney dialysis, anemia, and certain infections.
Symptoms of Hemochromatosis
The symptoms of hemochromatosis may vary depending on the severity of iron overload and the organs that are affected. Some people may not have any symptoms until they reach middle age or older. The symptoms may include:
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Joint pain and stiffness
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Abdominal pain and swelling
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Fatigue and weakness
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Diabetes or high blood sugar
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Loss of libido or impotence
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Irregular heartbeat or heart failure
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Liver damage or failure
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Skin color changes (bronze or gray)
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Early menopause or infertility
Diagnosis of Hemochromatosis
Hemochromatosis can be difficult to diagnose because the symptoms are often nonspecific or similar to other conditions. The diagnosis may be suspected based on the medical and family history, physical examination, and blood tests. The blood tests may include:
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Serum transferrin saturation: This test measures the percentage of iron that is bound to a protein called transferrin, which carries iron in the blood. A value higher than 45% indicates iron overload.
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Serum ferritin: This test measures the amount of iron stored in the liver and other tissues. A value higher than normal indicates iron overload.
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Genetic test: This test can detect the mutations in the HFE gene or other genes that cause primary hemochromatosis. This test can confirm the diagnosis and identify family members who may be at risk of the disease.
Other tests that may be done to assess the extent of organ damage or complications include:
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Liver function tests: These tests measure the levels of enzymes and other substances that reflect the health of the liver. Abnormal results may indicate liver inflammation, scarring, or failure.
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MRI: This is a noninvasive imaging test that can measure the amount of iron in the liver and other organs. This can help determine the severity of iron overload and monitor the response to treatment.
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Liver biopsy: This is a procedure that involves taking a small sample of liver tissue and examining it under a microscope. This can confirm the diagnosis of hemochromatosis, assess the degree of liver damage, and rule out other causes of liver disease.
Treatment of Hemochromatosis
The main goal of treatment for hemochromatosis is to reduce the amount of iron in the body and prevent or treat the organ damage and complications. The treatment options include:
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An effective and common treatment for hemochromatosis is phlebotomy, in which a certain amount of blood is withdrawn from the vein on a regular basis to reduce iron levels. The frequency and duration of phlebotomy depend on the individual's age, health, and iron levels. Phlebotomy may need to occur more frequently at the beginning, and less often once the iron levels have normalized.
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The alternative to phlebotomy is chelation therapy. Chelation therapy involves taking medications that bind to excess iron and help eliminate it from the body through urine or stool. It can be given orally or intravenously. In addition to nausea, diarrhea, headaches, and allergies, there are also possible side effects associated with the medications.
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People with hemochromatosis may also need treatment for organ damage and other conditions caused by iron overload. Medications, surgeries, or other interventions may be used to treat diabetes, heart disease, liver disease, arthritis, or reproductive issues.
Prevention of Hemochromatosis
Since primary hemochromatosis is a genetic disorder, it cannot be prevented. Early diagnosis and treatment are important for preventing and delaying the onset of symptoms and complications. If you have a family history of hemochromatosis, you should consider genetic testing and regular iron testing. To reduce complications, hemochromatosis patients should also follow these lifestyle measures:
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Avoid iron supplements and multivitamins that contain iron, unless prescribed by a doctor.
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Avoid vitamin C supplements and foods or drinks that are high in vitamin C, such as citrus fruits and juices, as they can increase iron absorption.
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Limit the intake of red meat, as it is a rich source of iron.
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Avoid alcohol, as it can increase the risk of liver damage and interact with some medications.
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Avoid raw shellfish, such as oysters, as they can contain bacteria that can cause serious infections in people with hemochromatosis.
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Eat a balanced diet that includes plenty of fruits, vegetables, grains, beans, nuts, and dairy products.
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Drink plenty of water and fluids to stay hydrated and help flush out the excess iron.
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Exercise regularly and maintain a healthy weight to improve overall health and well-being.
Hemochromatosis is a serious but treatable condition that requires lifelong monitoring and management. By following the recommended treatment and prevention strategies, people with hemochromatosis can live a normal and healthy life.
