Hemochromatosis: Symptoms, Causes, Risks, Complications, Diagnosis, Treatment and Prognosis

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A illustration of Hemochromatosis‬‏

Overview

Iron is a vital component of hemoglobin, the part in the blood which carries oxygen to the various cells in the body. If you don’t have enough iron, the blood cannot make healthy-carrying red blood cells. However, too much of everything is bad for the health, too.

In a condition called hereditary hemochromatosis, the body absorbs too much iron from the food you eat. Excessive amounts of iron may cause damage to the parts of the body like the joints, liver, pancreas, and heart.

This is a hereditary disease which means the genes inherited from the parents make a person develop serious problems. Hemochromatosis is also known as iron overload, which could lead to serious and unpleasant symptoms.

Symptoms

The symptoms of hemochromatosis usually appear later in midlife. The most common signs and symptoms include:

Later signs and symptoms of the disease may include:

  • Diabetes
  • Impotence
  • Heart failure
  • Liver failure
  • Decreased libido or low sex drive
  • Having a tanned-colored or bronze-colored skin
  • Abdominal pain
  • Shortness of breath
  • Edema or swelling in the hands and feet
  • Arrhythmia or an irregular heart rate or heartbeat
  • Testicles become smaller
  • Jaundice or yellowing of the skin
  • Always thirsty and drinking more frequently
  • Polyuria

Causes

Hereditary hemochromatosis is a result of a genetic mutation that can be inherited from the parents to the child. Most cases are associated with the mutation in the gene dubbed as HFE, which affects the ability of the body to absorb iron from food or dietary sources.

Normally, the body continues a balance between iron absorption and usage in the body. The level of iron the body absorbs should be based on the needs of the body. People with hemochromatosis cannot control the levels of iron they have in the body. As a result, the organs in the body become damaged in the process.

Gene mutation – The gene called HFE may have two mutations, C282Y and H63D. If the patient inherits two abnormal genes, the body develops hemochromatosis and he or she can pass them to the children. On the other hand, if the person just inherits one abnormal gene, he or she won’t have hemochromatosis.

How hemochromatosis affect the organs

The body and many of its functions need iron, which includes forming blood and distributing oxygen to the various parts of the body. However, too much iron is dangerous to the body.

In time, the stored iron can cause serious damage to the organs, leading to multiple organ failures and chronic diseases like diabetes, heart failure, and liver cirrhosis.

Risk Factors

Family history – People with first-degree relatives or family members that have the condition are more likely to develop it, too.

Race – Individuals who are of Northern European descent are more susceptible to developing hereditary hemochromatosis than other ethnicities. However, the condition is less common in Asian-Americans, African-Americans, and Hispanics.

Having two copies of the mutated HFE gene – The people with two copies of the mutated genes are at the greatest risk of having the disease.

Gender – Males are more likely to have the disease or develop early signs and symptoms at an earlier age. This is because women lose iron more frequently than men through pregnancy and menstruation.

Complications

If hemochromatosis is not treated appropriately, the patient may have several complications, especially in the organs where extra iron are stored and in the joints. The organs most commonly affected are the liver, pancreas, and the heart.

Liver damageHemochromatosis may lead to liver cirrhosis, the permanent scarring of the liver. This may increase the chances of the person to develop liver cancer and other potentially fatal complications.

Diabetes – Diabetes is a condition wherein the blood sugar levels are too high. It can happen in people with hemochromatosis because excessive amounts of iron can damage the pancreas, where insulin is produced and stored.

Heart problemsHemochromatosis or excessive iron in the body can affect the heart’s ability to circulate adequate amounts of blood to the body. When this happens, it could lead to a serious heart problem called congestive heart failure. Aside from that, excess iron can lead to the abnormal rhythm of the heart called arrhythmias.

Reproductive problems – Excess iron can also lead to erectile dysfunction and loss of sex drive in men. In women, it may lead to amenorrhea or the absence of the menstrual cycle.

Skin color changes – Hemochromatosis may also lead to the deposits of iron in the cells of the skin, which will make the skin appear gray or bronze.

Diagnosis

Hereditary hemochromatosis can be hard to diagnose. Many people do not have any signs and symptoms other than the increased levels in their blood. The following are diagnostic tests used to detect the disease:

Blood Tests

Serum ferritin – This test is used to measure the iron levels stored in the liver. This test will determine the amount of liver stored in the liver that may cause severe liver damage.

Serum transferrin saturation – This test is used to measure the amount of iron attached to a protein that carries the iron in the blood.

Further Tests – The doctor may request further tests for the diagnosis of the disease. These may entail imaging tests and other blood tests.

Liver function tests – These tests can help identify if the liver has been damaged.

Magnetic resonance imaging (MRI) – An MRI may be used to detect organ damage in the liver and the other parts of the body.

Genetic testing – This is the most reliable diagnostic test because it will determine the presence of mutated HFE genes in the body.

Liver biopsy – A liver biopsy involves removing tissue samples from the lover and examining it under a microscope. This will determine the presence of iron as well as for evidence of liver damage such as liver cirrhosis.

Ruling out other causes of increased iron levels:

High levels of iron in the body can have various causes other than hemochromatosis.
These include:

  • Long-term liver disease
  • Drinking beer that was brewed in iron containers
  • Sickle cell disease or thalassemia, which are conditions that need frequent blood transfusions
  • Excessive iron intake from injections and supplements
  • Dialysis in chronic kidney failure patients
  • Rare inherited conditions that can affect the red blood cells

Treatment

At present, there is currently no cure for hemochromatosis. However, some therapies and treatments can reduce the amount of iron in the body, particularly in the organs.

Blood removal or Phlebotomy – This is a process wherein some of the blood is removed. Also called venesection, the procedure is similar to giving blood. The patient will have a needle inserted into a vein to get a small amount of blood. The removed blood will trigger the body to get the extra stores of iron in the body, normalizing the blood iron levels.

There are two parts of this procedure – initial treatment and maintenance treatment. Initially, the blood is frequently removed, usually every week, until the iron levels are normal. The maintenance treatment is removed less often, about two to three months. This will keep the iron levels under control.

Chelation treatment – This is recommended for those who cannot undergo blood removal. This is recommended for those who have anemia and can’t have the blood treatment. This involves taking medication that removes iron from your blood and excretes it in the urine or stool.

Lifestyle changes – People with the condition do not need many changes in their habits such as avoiding foods rich in iron. All you need to do is eat a healthy and well-balanced diet, avoiding taking iron supplements and vitamin C supplements, refraining from eating raw oysters or clams and avoiding too much alcohol.

You need to avoid iron supplements because these could add to the already increased levels of iron in the body. Also, you need to stop taking vitamin C supplements as these could hasten the absorption of iron in the body. Alcohol intake is also restricted because it can further cause liver damage in people with hemochromatosis.

Lastly, eating raw selfish and fish, such as oysters or clams, are prone to having infections, specifically those found in raw food.

Prognosis

The prognosis and outlook of hemochromatosis depend on the severity of organ damage, especially the liver. The patients with severe liver cirrhosis and diabetes appear to have shorter life expectancies than other people. Some symptoms may alleviate by bloodlettings such as liver disease, tiredness, skin pigmentation and stomach pain.

If the condition is left untreated, hemochromatosis may have a poor prognosis or outlook. The condition may eventually lead to multiple organ damage, such as heart failure and liver failure, diabetes and liver cancer.

In many cases, however, patients who receive treatment before any organ has been damaged may have a better prognosis and outlook. If a person receives the proper treatment needed for the condition, he or she may have a normal life expectancy.

Hence, detecting the condition early is important and vital to be able to reduce the risk of serious complications. Preventing these complications may help reduce the chances of multiple organ failures, which may lead to death.