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Types, Risk Factors, and Causes

Hemochromatosis is a medical condition in which too much iron builds up in the body. Serious health problems can arise because your body cannot eliminate the excess iron.

The excess iron builds up in your:

  • liver
  • skin
  • heart
  • pancreas
  • joints
  • pituitary gland

This buildup of iron can cause tissue and organ damage.

Many people with hemochromatosis don’t have noticeable symptoms. When symptoms do exist, they may vary between individuals.

Some common symptoms include:

  • fatigue and weakness
  • weight loss
  • a low sex drive
  • abdominal pain
  • bronze or gray skin color
  • joint pain

The two forms of hemochromatosis are primary and secondary.

Primary hemochromatosis

Primary hemochromatosis, also known as hereditary hemochromatosis, usually results from genetic factors.

The HFE gene, or hemochromatosis gene, controls how much iron you absorb from food. It lives on the short arm of chromosome 6. The two most common mutations of this gene are C28Y and H63D.

Usually, a person with hereditary hemochromatosis inherits a copy of the defective gene from each parent. However, not everyone who inherits the genes develops the illness. Researchers are looking into why some people have symptoms of iron overload and others do not.

In the United States, about 1 in 300 white, non-Hispanic people have this condition. Many do not realize they have it. Complications are more likely to occur in males and those with other medical problems like diabetes or liver disease.

In females, symptoms may not appear until after menopause. This is because menstruation tends to reduce iron levels in the blood. Once menstruation stops, levels may build up.

Secondary hemochromatosis

Secondary hemochromatosis occurs when a buildup of iron stems from another medical condition, such as erythropoietic hemochromatosis. In this disease, the red blood cells release too much iron into the body because they are too fragile.

Other risk factors for secondary hemochromatosis include:

  • alcohol dependency
  • a family history of diabetes, heart disease, or liver disease
  • taking iron or vitamin C supplements, which can increase the amount of iron the body absorbs
  • frequent blood transfusions

A doctor will:

  • ask about symptoms
  • ask about any supplements you may take
  • ask about personal and family medical history
  • carry out a physical exam
  • recommend some tests

The symptoms can resemble those of many other conditions, making diagnosis difficult. Several tests may be necessary to confirm a diagnosis.

Blood testing

A blood test, such as a serum transferrin saturation (TS) test, can measure iron levels. A TS test measures how much iron is bound to the protein transferrin, which carries iron in your blood.

A blood test can also give an idea about your liver function.

Genetic testing

DNA testing can show if a person has genetic changes that may lead to hemochromatosis. If there is a family history of hemochromatosis, DNA testing can be useful for those planning to start a family.

For the test, a healthcare professional may draw blood or use a swab to collect cells from your mouth.

Liver biopsy

The liver is the main place where the body stores iron. It is usually one of the first organs damaged by iron buildup.

A liver biopsy can show if there is too much iron in the liver or if liver damage is present. The doctor will remove a small piece of tissue from your liver for testing in a lab.

MRI tests

MRI scans and other noninvasive tests can also measure iron levels in the body. A doctor may recommend an MRI test instead of a liver biopsy.

Treatment is available for managing high iron levels.

Phlebotomy

The main medical treatment is phlebotomy. This involves taking blood and iron from the body. A healthcare professional puts a needle into a vein, and blood flows into a bag, like when donating blood.

At first, around 1 pint of blood will be removed once or twice a week. When iron levels return to normal, you may need treatment every 2 to 4 months.

Chelation

Another option is chelation. This is a developing therapy that can help manage iron levels, but it is expensive and not a first-line treatment option.

A doctor may inject the drugs or give you pills. Chelation helps your body expel excess iron in your urine and stool.

However, there may be side effects, such as pain at the injection site and flu-like symptoms.

Chelation may be suitable for people with heart complications or other contraindications for phlebotomy.

Complications can arise in the organs that store excess iron. A person with hemochromatosis may have a higher risk of:

Early treatment and active management and monitoring of iron levels can help you avoid complications.

Measures that can help you manage your health with hemochromatosis include:

  • having annual blood tests to monitor iron levels
  • avoiding multivitamins, vitamin C supplements, and iron supplements
  • avoiding alcohol, which can cause additional damage to the liver
  • taking care to avoid infections, for example, by having regular vaccinations and following good hygiene practices
  • keeping a log of iron levels to monitor changes
  • following all the doctor’s instructions and attending all appointments
  • contacting your doctor if symptoms worsen or change
  • asking your doctor about counseling if symptoms affect your quality of life

The outlook for hemochromatosis varies. If a person receives treatment before organ damage has occurred, treatment can improve the outlook.

Treatment can prevent further damage and may reverse any damage that is already present. With early treatment, there is a good chance of a normal lifespan.

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