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Hemochromatosis: Iron Overload Disease

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heathy liver vs iron overloaded haemochromatosis liver

Iron is a vital mineral in our body, helping us carry oxygen in the blood and perform many other important functions. We have heard quite often about iron deficiency in the body which can cause a lot of issues in people, especially kids. 

However too much iron can be harmful, causing a condition called hemochromatosis. 

What is Hemochromatosis?

Imagine your body like a storage container. Normally, it takes in just the right amount of iron it needs and stores any extra safely. Hemochromatosis is an inherited condition where your body absorbs too much iron from your food. Over time, this extra iron builds up in organs like your liver, heart, and pancreas, causing damage if left untreated.

Types of Iron Overload:

  • Primary Hemochromatosis: This is the most common type and is genetic. It means the condition runs in families, and you inherit faulty genes that control iron absorption.
  • Secondary Hemochromatosis: This type develops due to other medical conditions, such as:
    • Anemia: A condition where your body doesn’t have enough red blood cells.
    • Liver Disease: Certain liver problems can affect iron storage.
    • Frequent Blood Transfusions: Receiving regular blood transfusions can lead to iron buildup over time.
  • Juvenile Hemochromatosis: This rare form affects younger individuals, often presenting symptoms between ages 15 and 30, and is caused by mutations in different genes, such as hemojuvelin or hepcidin.
  • Neonatal Hemochromatosis: A severe condition where iron builds up rapidly in a developing fetus, thought to be autoimmune in nature.

Who is at Risk?

Hemochromatosis is more common in some people than others. Here are a few factors that might increase your risk:

  • Family History: If someone in your family has hemochromatosis, you may be at higher risk.
  • Gender: Men are more likely to develop symptoms at a younger age compared to women. This is because women lose iron during menstruation, which can delay the onset of the condition.
  • Age: Most people with hemochromatosis start showing symptoms between the ages of 40 and 60.

Symptoms of Hemochromatosis

The symptoms of hemochromatosis can vary from person to person. Some people may not have any symptoms at all, especially in the early stages. However, as the iron builds up, you may notice the following signs:

  • Fatigue: Feeling unusually tired or weak.
  • Joint Pain: Pain in your joints, especially in the hands and knees.
  • Abdominal Pain: Pain in the upper part of your stomach.
  • Bronze or Gray Skin: Your skin may take on a bronze or gray color.
  • Disrupted Sex Life: Loss of sex drive and erectile dysfunction
  • Diabetes: High levels of iron can affect your pancreas, leading to diabetes.
  • Heart Problems: Excess iron can cause irregular heartbeats or heart failure.
  • Liver Damage: Over time, too much iron can damage your liver, leading to conditions like cirrhosis or liver cancer.

How is Hemochromatosis Diagnosed?

If you suspect you might have hemochromatosis, it’s important to see a doctor. They will ask about your symptoms and family history and may order some tests, including:

  • Blood Tests: These can measure the amount of iron in your blood and how well your liver is functioning.
  • Genetic Testing: If your doctor suspects primary hemochromatosis, they may recommend a genetic test to check for mutations in the genes responsible for the condition.
  • Liver Biopsy: In some cases, a small sample of your liver may be taken to check for iron buildup and any liver damage.

Treatment Options

The main goal of treatment is to reduce the amount of iron in your body and prevent further damage to your organs. Treatment options include:

  1. Phlebotomy (Blood Removal): This is the most common treatment for hemochromatosis. It’s similar to donating blood and involves removing a certain amount of blood from your body regularly. This helps lower iron levels since iron is used to make new blood cells.
  2. Chelation Therapy: If you cannot undergo phlebotomy, your doctor may recommend chelation therapy. This treatment involves taking medicine that binds to excess iron and helps your body remove it through urine.
  3. Dietary Changes: While diet alone cannot cure hemochromatosis, making certain changes can help manage iron levels. Your doctor might suggest:
    • Avoiding Iron Supplements: Since you already have too much iron, it’s important to avoid taking iron supplements.
    • Limiting Vitamin C: Vitamin C helps your body absorb iron, so you might need to limit foods and drinks high in vitamin C.
    • Avoiding Raw Shellfish: People with hemochromatosis are at higher risk for certain infections, so it’s best to avoid raw or undercooked shellfish.

Complications

If untreated, hemochromatosis can lead to severe complications, including:

  • Liver cirrhosis and liver failure
  • Diabetes due to pancreatic damage
  • Heart conditions, such as congestive heart failure and arrhythmias
  • Arthritis and joint issues
  • Hormonal imbalances affecting reproductive health.

Early diagnosis and treatment are crucial in managing hemochromatosis and preventing long-term complications. Regular monitoring and lifestyle adjustments, including dietary changes, can also be beneficial in managing iron levels. Book your consultation today with Prof Muzaffar Latif Gill, one of the best gastroenterologists and Hepatologist in Pakistan.