How to know if you have haemochromatosis

Haemochromatosis is a disease where an excess of iron builds up in the body and ends up poisoning organs, including the liver, heart, and pancreas Download artcam. Eventually, this can cause organ failure.

Iron is an essential mineral that is responsible for transporting oxygen in the blood. Too little iron can cause conditions such as anaemia, while too much can be toxic to your organs. Iron overload can contribute to an enlarged liver, liver failure, liver cancer, or cirrhosis, which is the scarring of the liver.

Too much iron in the heart can cause arrhythmias (irregular heartbeats) and heart failure, and in the pancreas, it can lead to diabetes. If haemochromatosis isn’t treated, it may even cause death.

Iron overload

The excessive absorption and storage of iron is considered a genetic disorder. According to the National Organisation for Rare Disorders, hereditary haemochromatosis is caused by mutations of the mutated HFE gene (H refers to high, and FE means iron). The disorder is thought to be most common amongst Caucasian men, while is seen less often in menstruating women as blood loss reduces iron levels.

This disease is categorised as:

Primary or classic haemochromatosis: This is passed on genetically, and it accounts for up to 90% of cases.

Secondary haemochromatosis: Results from anaemia or chronic liver disease, like chronic hepatitis C infection or alcoholic liver disease.

Symptoms

Symptoms can occur at any age but are more likely in those between the ages of 40 and 60. Common symptoms include:

  • Fatigue
  • Weakness
  • Weight loss.
  • Abdominal pain.
  • Women may stop menstruating.
  • High sugar levels.
  • Hypothyroidism, or low thyroid function.
  • Loss of libido and/or sex drive, and erectile dysfunction.
  • Reduction in the size of testicles.
  • Skin becomes bronzed, like a sun tan.
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Left untreated, the following conditions may develop:

  • Heart disease.
  • Pancreatitis
  • Arthritis
  • Cirrhosis of the liver (scarring of the liver).
  • Diabetes
  • Enlargement of the liver.

Diagnosing haemochromatosis

There are two blood tests that can detect iron overload, even before symptoms appear.

  • Serum transferrin saturation: Transferrin is a protein that carries iron in the blood. This test measures the amount of iron bound to transferrin.
  • Serum ferritin: This blood test measures the amount of iron the body has stored.

Both tests are necessary to diagnose haemochromatosis. Sometimes, they need to be repeated for accuracy, as other diseases and conditions can also contribute to raised ferritin levels. The disease is often found while checking for other diseases or conditions like liver disease, arthritis, diabetes, heart disease, or erectile dysfunction. Your doctor will diagnose the disease based on your medical and family history, a physical exam, and the results from tests. Your doctor may also refer you to a liver specialist, or a cardiologist if necessary.

Treatment

Phlebotomy is a regular treatment used to remove iron-rich blood from the body. It’s similar to donating blood, but the aim is to reduce iron levels to a healthy level. The amount of blood that can be taken depends on whether you’re male or female, and your overall health. Treatment may also include medication that works to bind excess iron so that it can be excreted from your body.

References