Description

Hemochromatosis (he-moe-kroe-muh-TOE-sis) is a condition that causes the body to absorb too much iron from the food. The excess iron is stored in organs, especially the liver, heart and pancreas. The excess iron can lead to life-threatening conditions, such as liver disease, heart problems, and diabetes.

There are some types of hemochromatosis, but the most common type is caused by a change in the gene passed down through the families. Only a couple of people who have the genes to develop serious problems. The symptoms usually appear in mid-life.

The treatment includes regularly in the extraction of blood from the body. Because a large part of the body's iron is contained in red blood cells, this treatment reduces the levels of iron.

Symptoms

Some people with hemochromatosis never have any symptoms. The first symptoms often overlap with those of other common diseases.

Symptoms may include:

  • Pain in the joints.
  • Belly pain.
  • Fatigue.
  • The weakness.
  • Diabetes.
  • Loss of sexual desire.
  • Impotence.
  • Heart failure.
  • Liver failure.
  • Bronze or grey the color of the skin.
  • The memory of the fog.

When the symptoms typically appear

The most common type of hemochromatosis is present at birth. But most people do not experience symptoms until later in life — usually after 40 years of age in men and after age 60 in women. Women are more likely to develop symptoms after menopause, when you no longer lose iron with menstruation and pregnancy.

When to see a doctor

Consult a health care professional if you experience any of the symptoms of hemochromatosis. If you have an immediate family member who has hemochromatosis, ask your health care team about genetic testing. Genetic testing can verify whether you have the gene that increases the risk of hemochromatosis.

Causes

Hemochromatosis is most often caused by a change in a gene. This gene controls the amount of iron that the body absorbs from food. The altered gene is passed from parents to children. This type of hemochromatosis is by far the most common type. It is called hereditary hemochromatosis.

Mutations in the gene cause hemochromatosis

A HFE gene is more often the cause of hereditary hemochromatosis. You inherit a gene HFE of each of their parents. The HFE gene has two mutations, C282Y and H63D. Genetic testing can reveal if you have these changes in the HFE gene.

  • If you inherit two altered genes, you can develop hemochromatosis. You can also pass the altered gene on to their children. But not all people who inherit two genes develops the problems associated with iron overload from hemochromatosis.
  • If you inherit an altered gene, it is unlikely to develop hemochromatosis. However, it is considered that you are a carrier and can pass the altered gene on to their children. But their children do not develop the disease, unless that also inherits from another altered gene from the other parent.

How to hemochromatosis affects your organs

Iron plays an important role in various body functions, including helping to produce blood. But the excess of iron is toxic.

A hormone secreted by the liver, so-called hepcidin, controls how the iron is used and absorbed in the body. It also controls how the excess iron is stored in various organs. In hemochromatosis, the role of hepcidin is affected, causing the body to absorb more iron than you need.

This excess iron is stored in the major organs, especially the liver. Over a period of years, the stored iron can cause serious damage that can lead to organ failure. It can also lead to long-lasting diseases, such as cirrhosis, diabetes, and heart failure. Many people have the changes in the genes that cause hemochromatosis. However, not everyone develops the iron overload, to a degree that causes tissue and organ damage.

Hereditary hemochromatosis is not the only type of hemochromatosis. Other types include:

  • Hemochromatosis juvenile. This causes the same problems in the young hereditary hemochromatosis causes in adults. But the accumulation of iron begins long before, and the symptoms usually appear between the ages of 15 and 30. This condition is caused by changes in the hemojuvelin or hepcidin genes.
  • Hemochromatosis Neonatal. In this severe disease, iron is rapidly accumulated in the liver of the fetus in the uterus. This is thought to be an autoimmune disease in which the body attacks itself.
  • Hemochromatosis secondary. This form of the disease is not hereditary and is often referred to as iron overload. People with certain types of anemia or liver disease may often need multiple blood transfusions. This can lead to an excessive accumulation of iron.

Risk factors

The factors that increase the risk of hemochromatosis include:

  • Having two copies of a disruption of the HFE gene. This is the greatest risk factor for hereditary hemochromatosis.
  • The history of the family. Having a father or brother with hemochromatosis increases the likelihood of developing the disease.
  • The ethnic origin. The people of Northern European descent are more prone to hereditary hemochromatosis who are people of other ethnic origins. Hemochromatosis is less common in people of Black, Hispanic, and Asian ancestry.
  • Sex. Men are more likely than women to develop the symptoms of hemochromatosis in an early age. Because women lose iron through menstruation and pregnancy, they tend to store less of the minerals that men do. After menopause or a hysterectomy, the risk increases for women.

Complications

Untreated, hemochromatosis can lead to several complications. These complications affect the joints and organs where the excess iron tends to be stored, such as the liver, the pancreas and the heart. Complications can include:

  • Liver problems. Cirrhosis — permanent scarring of the liver — is only one of the complications that can occur. Cirrhosis increases the risk of liver cancer and other life-threatening complications.
  • Diabetes. Damage to the pancreas may lead to diabetes.
  • The problems of the heart. The excess iron in the heart affects the heart's ability to circulate enough blood for the body's needs. This is called congestive heart failure. Hemochromatosis can also cause irregular heart rhythms, called arrhythmias.
  • Reproductive problems. The excess iron can lead to erectile dysfunction and loss of sexual desire in men. May cause an absence of the menstrual cycle in women.
  • Skin color changes. The deposits of iron in the cells of the skin can make the skin look bronze or gray in color.

Diagnosis

Hemochromatosis can be difficult to diagnose. The first symptoms such as joint stiffness and fatigue can be due to conditions other than hemochromatosis.

Many people with the disease have no symptoms other than high levels of iron in your blood. Hemochromatosis can be identified due to the irregular blood test results after the test is performed for other reasons. Also may be disclosed when the screening of family members of people diagnosed with the disease.

Blood tests

The two main tests to detect iron overload are:

  • Serum transferrin saturation. This test measures the amount of iron bound to the protein transferrin, which transports iron in the blood. The transferrin saturation values in excess of 45% is regarded as too high.
  • The serum ferritin. This test measures the amount of iron stored in the liver. If the results of a test of transferrin saturation in serum are higher than usual, a health care professional can check the levels of serum ferritin.

These blood tests for iron is best performed after a fast. Elevations in one or all of these tests can be found in other disorders. You may need to have the tests repeated to obtain more accurate results.

Additional tests

A health care provider may suggest other tests to confirm the diagnosis and to look for other problems:

  • The liver function tests. These tests can help to identify the damage in the liver.
  • The magnetic resonance imaging. A magnetic resonance imaging method is a rapid and non-invasive means to measure the degree of iron overload in the liver.
  • The evidence for changes in the genes. DNA testing for changes in the HFE gene is recommended if there are high levels of iron in the blood. If you are considering genetic testing for hemochromatosis, discuss the reasons for and against with your health care professional or a genetic counselor.
  • Removing a sample of liver tissue for analysis. If liver damage is suspected, a liver biopsy can be done. During a liver biopsy, a tissue sample is extracted from the liver using a thin needle. The sample goes to a lab to check for the presence of iron. The lab is also looking for evidence of liver damage, especially in the scarring or cirrhosis. The risks of biopsy include bruising, bleeding and infection.

Detection of healthy people of hemochromatosis

Genetic testing is recommended for all the parents, siblings and children of people with a diagnosis of hemochromatosis. If a change in the gene is found in only one of the parents, the children do not need to be tested.

Treatment

Extraction of blood

Medical professionals can treat hemochromatosis safely and effectively by removing blood from the body on a regular basis. This is similar to the blood donation. The process is known as phlebotomy.

The goal of phlebotomy is to lower the levels of iron. The amount of blood drawn and how often are removed depend on the age, overall health and the severity of iron overload.

  • The initial treatment programming. In the beginning, around a pint (around 470 milliliters) of blood can be taken once or twice a week — usually in a hospital or medical professional for the office. While leaning back in a chair, place a needle into a vein in the arm. The blood flows from the needle into a tube that is connected to a blood bag. The process of the extraction of blood is known as the therapeutic removal of blood.
  • Maintenance of the treatment program. Once iron levels go down, the blood can be removed with less frequency, typically every 2 to 3 months. Some people can maintain a typical iron levels without having any blood tests. Some may need blood drawn monthly. The schedule depends on the speed of iron accumulates in the body.

The treatment of hemochromatosis can help to relieve the symptoms of tiredness, stomach pain and darkening of the skin. You can help to prevent serious complications such as liver disease, heart disease, and diabetes. If you already have one of these conditions, phlebotomy may slow the progression of the disease. In some cases, you can even reverse.

Phlebotomy can't reverse cirrhosis or pain in the joints, but it can slow the progression.

For someone with cirrhosis, a health professional may recommend an occasional screening for cancer of the liver. This usually involves an abdominal ultrasound and computed tomography.

The chelation for those who cannot undergo the extraction of blood

Phlebotomy may not be an option for someone who have certain conditions, such as anemia or heart complications. Instead, a health professional may recommend a medication to remove excess iron. The medicine can be injected into the body, or it can be taken as a pill. The medication binds the excess of iron, allowing the body to expel iron through the urine or feces in a process called chelation (KEE-lay-shun). Chelation therapy is not commonly used in hemochromatosis.

Lifestyle and home remedies

In addition to the therapeutic removal of blood, making some lifestyle changes can further reduce the risk of complications of hemochromatosis, such as:

  • Do not take iron supplements and multivitamins that contain iron. These can increase your iron levels even more.
  • Do not take supplements of vitamin C. vitamin C increases the absorption of iron. There is usually no need to restrict the vitamin C in your diet, however.
  • Stay away from alcohol. Alcohol increases the risk of liver damage in people with hemochromatosis. If you have hemochromatosis and you already have liver disease, avoid alcohol completely.
  • Do not eat raw fish and seafood. People with hemochromatosis are at risk of infections, particularly those caused by certain bacteria in the raw fish and seafood.

Additional changes in the diet are usually not necessary for the people who receive the blood removal treatment.

Preparing for your appointment

Make an appointment with someone in the team of primary health care if you have any symptoms that worry you. You may be referred to a specialist in diseases of the digestive system, called a gastroenterologist or other specialist, depending on the symptoms. Here's some information to help you prepare for your appointment, and what to expect.

What you can do

  • Be aware of any preappointment restrictions. At the time you make the appointment, be sure to ask if there is anything that you need to do in advance, such as restrict your diet.
  • Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
  • Write down key personal information, including any major stresses or recent life changes. Know if you have any liver disease in your family asking members of your family, if possible.
  • Make a list of all medications, vitamins or supplements you are taking.
  • Have a family member or a friend to help you to remember what has been spoken.
  • Write questions during your appointment.

Questions to ask your doctor

Some basic questions to ask include:

  • What is the most likely cause of my symptoms?
  • What kinds of tests do I need?
  • Is my temporary condition, or will I forever?
  • What treatments are available? And what do you suggest for me?
  • I have other health conditions. How can I best manage these conditions?
  • Are there any restrictions that I need to follow?
  • Are there brochures or other printed material that I can take with me? What sites do you recommend?

Do not hesitate to ask questions during your appointment.

What to expect from your doctor

Be prepared to answer questions to your care team may ask:

  • When did you begin experiencing symptoms?
  • The symptoms been continuous or come and go?
  • How severe are the symptoms?
  • Nothing seems to improve the symptoms?
  • What, if anything, appears to worsen your symptoms?
  • Does anyone in your family have hemochromatosis?
  • How many alcoholic beverages you consume in a week?
  • You're taking iron supplements or vitamin C?
  • Do you have a history of viral hepatitis, such as hepatitis C?
  • You have required blood transfusions before?
Symptoms and treatment of Hemochromatosis