What is Hemochromatosis? What are the Causes, Symptoms and Treatment?

Hemochromatosis is a disease that causes too much iron to build up in your body. Iron is a mineral found in many foods. Too much iron is toxic to your body. You can find more information below:

What is hemochromatosis?

Hemochromatosis , also known as hemochromatosis , is a genetic disease caused by the body’s absorption and accumulation of too much iron from the food consumed . Excess iron; It is stored in the tissues and organs of the body, especially the skin, heart, pancreas, and liver. Because people affected by hemochromatosis are deficient in iron excretion, excess iron can build up in the body and eventually damage tissues and organs. For this reason, hemochromatosis is also called iron overload disorder .

Early symptoms of hereditary hemochromatosis can include extreme fatigue, joint pain, abdominal pain , weight loss, and loss of sex drive. As the condition worsens, affected individuals may develop rheumatoid arthritis (arthritis), liver disease (cirrhosis) or liver cancer, diabetes, heart abnormalities or skin discoloration. The appearance and severity of symptoms; The amount of iron in the foods consumed can be affected by environmental and lifestyle factors such as alcohol use and infections.

There are four types of hemochromatosis classified based on other factors such as age of onset, genetic cause, and mode of inheritance. Types 1 and 4 ( also called ferroportin disease ) are the most common forms of the disease and begin in adulthood. (Ferroportin is the name given to the transmembrane protein that carries iron from the cell to the outside of the cell.) Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause.

Type 2 hemochromatosis (juvenile hemochromatosis) is known as a young-onset disease because symptoms often begin in childhood. Up to the age of 20, the accumulation of iron causes a decrease or absence in the secretion of sex hormones. Affected women’s menstrual periods may stop after a few years. Men may experience symptoms related to delayed puberty or a lack of sex hormones. If type 2 hemochromatosis is left untreated, it causes potentially fatal heart disease, with significant symptoms appearing before the age of 30.

The onset of type 3 hemochromatosis is usually intermediate between type 1 and type 2, and symptoms usually begin before age 30.

What is the incidence?

Type 1 hemochromatosis is one of the most common genetic disorders affecting millions of people around the world. It most often affects people of Northern European descent. Other types of hemochromatosis are considered rare and only a small number of cases have been reported worldwide.

Hemochromatosis causes and risk factors

Mutations in several genes can cause hemochromatosis . Type 1 hemochromatosis is caused by mutations in the HFE gene and type 2 hemochromatosis is caused by mutations in the HJV or HAMP gene. Type 3 hemochromatosis is caused by mutations in the TFR2 gene while type 4 hemochromatosis is caused by mutations in the SLC40A1 gene.

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Proteins produced from these genes play an important role in regulating the absorption, transport and storage of iron in the body. Mutations in any of these genes disrupt the intestinal balance and control of absorption of iron-containing foods during digestion and alter the distribution of iron to other parts of the body. As a result, as the normal function of iron is disrupted, it begins to accumulate in tissues and organs.

Who is at risk?

Factors that increase the risk of hemochromatosis include:

  • Having 2 copies of a mutated HFE gene:
    This inherited trait is the biggest risk factor for hemochromatosis.
  • Family health history:
    Your first-degree relative with hemochromatosis; If you have a parent or sibling, you are more likely to develop the disease.
  • Ethnicity:
    People of Northern European descent are more prone to hereditary hemochromatosis than other ethnicities.
  • Gender:
    Men are more likely than women to develop signs of hemochromatosis at an earlier age. Because women lose iron through menstruation and pregnancy, they tend to store less minerals than men. The risk is increased for women after menopause or after a hysterectomy (complete removal of uterine structures by surgical intervention).

Symptoms of hemochromatosis

Some people with hemochromatosis never experience symptoms. Early symptoms often overlap with other common conditions.

When symptoms do occur, they may include:

  • Joint pain
  • Stomach ache
  • Tiredness
  • Weakness
  • Diabetes
  • Loss of sex drive
  • Impotence
  • Heart failure
  • Liver failure
  • tan or gray tan
  • memory blur

Hereditary hemochromatosis is also present at birth. However, most people do not begin to experience symptoms until later in life. Symptoms usually appear after the age of 40 in men and after the age of 60 in women. Women are more likely to develop symptoms after menopause, as they no longer lose iron with menstruation and pregnancy.

When should you see a doctor?

If you are experiencing any of the above symptoms of hemochromatosis, it is always useful to consult your doctor. If you have a close family member with hemochromatosis, you may want to have genetic testing to find out if you also have the disease.

Diagnosis of hemochromatosis

Diagnosing hemochromatosis can be difficult. Because early symptoms such as joint stiffness and fatigue can be caused by conditions other than hemochromatosis.

Many people with the disease have no symptoms other than high iron levels in their blood. The diagnostic process can be further clarified by screening family members of people who have been diagnosed with hemochromatosis, abnormal blood tests for other reasons, or have been diagnosed with the disease.

blood tests

Two key tests to detect iron overload are:

  • Serum transferrin saturation: This test measures the amount of iron bound to transferrin, an iron-carrying protein in your blood. Transferrin saturation values ​​above 45 percent are considered very high.
  • Serum ferritin: This test measures the amount of iron stored in your liver. If the results of your serum transferrin saturation test are higher than normal, your doctor will check the serum ferritin level.
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Because some other conditions can also cause high ferritin, results from both blood tests are abnormal among people with this disorder and are best done while the test is fasting for results.

Elevations in one or all of these blood tests for iron can also be found in other disorders. Tests may need to be repeated for most accurate results. People with an abnormal iron test result should undergo genetic testing to confirm the diagnosis.

Additional tests

Your doctor may also recommend the following other tests to confirm the diagnosis and look for other problems:

  • Liver function tests: These tests can help identify liver damage.
  • Magnetic resonance imaging (emar): Magnetic resonance imaging is a quick way to measure the degree of iron overload in your liver.
  • Testing for gene mutations: If you have high levels of iron in your blood, it is recommended that you test your DNA for mutations in the HFE gene. If you’re considering genetic testing for hemochromatosis, you can discuss the pros and cons with your doctor or a genetic counselor.
  • Removing a sample of liver tissue for testing (liver biopsy): If liver damage is suspected, your doctor may take a sample of tissue from your liver using a fine needle. The sample tissue is sent to a laboratory to be checked for iron and especially for evidence of liver damage such as scarring or cirrhosis. Biopsy risks include bruising, bleeding, and infection.

Screening healthy people

Genetic testing is recommended for all first-degree relatives – parents, siblings and children – of anyone diagnosed with hemochromatosis. If the mutation is found in only one parent, the children do not need to be tested.

Hemochromatosis treatment

blood draw

Doctors can safely and effectively treat hemochromatosis by regularly removing blood from your body, as if you were donating blood. This is called phlebotomy .

The goal of phlebotomy is to bring your iron levels back into the normal range. The amount of blood removed and how often it is removed depend on your age, general health, and severity of iron overload. It may take a year or more to reduce the iron in your body to normal levels.

  1. Initial treatment program:
    Initially, you can give about 470 milliliters of blood once or twice a week, and it’s pretty simple. While you are reclining in a chair, a needle is inserted into a vein in your arm. The blood flows from the needle into a tube connected to the blood bag.
  2. Maintenance treatment program:
    Once your iron levels return to normal, the blood draw may be increased less frequently, typically every two to four months. Some people can maintain normal iron levels without giving any blood, or some may need to donate blood monthly. The schedule depends on how quickly the iron builds up in your body.
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Hemochromatosis treatment; It can help relieve symptoms of fatigue, abdominal pain, and darkening of the skin. It can also help prevent serious complications such as liver disease, heart disease, and diabetes . If you already have one of these conditions, phlebotomy can slow the progression of the disease and even reverse it in some cases.

Phlebotomy still does not reverse cirrhosis or improve joint pain. If you have cirrhosis, your doctor may recommend periodic screening for liver cancer. This screening process usually includes an abdominal (abdominal) ultrasound and blood test.

Chelation therapy for those whose blood cannot be drawn

If you are unable to perform a phlebotomy, for example, if you have anemia or are at risk of heart complications, your doctor may recommend a medication to remove excess iron. The drug can be injected into your body or taken as a pill. The drug binds excess iron, allowing your body to excrete it through urine or feces in a process called chelation. Chelation therapy; It is the process of giving EDTA (ethylene diamine tetra acetic) acid to the body.

Lifestyle and home remedies

In addition to giving therapeutic (therapeutic) blood, you can further reduce your risk of complications from hemochromatosis if you:

  1. Avoid iron supplements and multivitamins that contain iron:
    These can increase your iron levels even more.
  2. Avoid vitamin C supplements:
    Vitamin C increases the absorption of iron. However, you usually do not need to restrict vitamin C in your diet.
  3. Avoid alcohol:
    Alcohol greatly increases the risk of liver damage in people with hemochromatosis. If you have hemochromatosis or liver disease, you should avoid alcohol completely.
  4. Avoid eating raw fish and shellfish:
    People with hemochromatosis are particularly susceptible to infections caused by certain bacteria in raw fish and shellfish.

Hemochromatosis complications

If left untreated, hemochromatosis can lead to a number of complications, especially in your joints and organs where excess iron tends to be stored (liver, pancreas, and heart). Complications can include:

  1. Liver problems:
    Cirrhosis is just one of the problems that can occur. Cirrhosis, liver cancer, and other complications increase your risk of dying.
  2. Pancreas problems:
    Damage to the pancreas can lead to diabetes.
  3. Heart problems:
    Excess iron affects your heart’s ability to circulate enough blood for your body’s needs. This is called congestive heart failure . Hemochromatosis can also cause abnormal heart rhythms (arrhythmias).
  4. Reproductive problems:
    Excess iron; can lead to erectile dysfunction (impotence) and loss of sex drive in men and absence of menstrual cycles in women.
  5. Skin discoloration:
    Iron deposits in skin cells can make your skin appear tan or gray.

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