Hemochromatosis

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at July 27, 2016
StartDiseasesHemochromatosis

Between 1 in 200 and 1 in 400 individuals of North European ancestry have HFE hereditary haemochromatosis (also known as hemochromatosis, haemochromatosis, iron overload, or hereditary hemochromatosis). It is one of the most common hereditary disorders among that population and especially prevalent among people of Irish, and to a lesser level, English descent. This disorder involves the gradual accumulation of iron in the body.

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Definition & Facts 

Hemochromatosis describes the build-up of iron in the parenchymal organs, which are the essential or distinguishing cells, rather than the organ framework (which, in contrast, is called the stroma).

Hereditary hemochromatosis is the result of a genetic mutation of the human hemochromatosis protein (HFE, for High Iron Fe; Fe is the chemical symbol for iron), which is located on the short arm of chromosome 6. Normal HFE proteins fulfill a regulatory role through interactions with key cell receptors and ligands, and if functioning properly, prevent the body from absorbing too much iron.

There are several types of hereditary hemochromatosis. Type 1 is the most common form and occurs later in life. Type 4 also begins in adulthood whereas Type 2 is symptomatic among children, and Type 3 is symptomatic in young adulthood. People who have hemochromatosis absorb unusually high levels of iron from their nutritional intake, and this excess iron leads to a range of symptoms associated with hemochromatosis.

Symptoms & Complaints

Early symptoms include: fatigue, joint pain, hair loss, erectile dysfunction in men, and absent menses in women. Hemochromatosis also presents with liver disease , diabetes mellitus, osteoporosis, and cardiomyopathy, among others. However, up to three-quarters of individuals with hemochromatosis are asymptomatic. 

Causes

Haemochromatosis is usually an autosomal recessive disorder. Only type 4 is an autosomal dominant disorder. It can also be rooted in non-genetic causes. A non-exhaustive list of these alternative causes is below. 

  • Gender: Men are more likely than women to have hemochromatosis, due to the loss of blood (and thus, iron) during menstruation and childbirth
  • Age: Older individuals are more likely to have accumulated iron in their bodies (type 1 hemochromatosis is the common form and has late onset)
  • Diet: Consuming a diet rich in iron, or water with high iron levels, place certain individuals at a higher risk for hemochromatosis. 

Diagnosis & Tests

Because the symptoms develop gradually over an individual’s lifetime and can usually be attributed to other conditions or normal life stresses, hemochromatosis may be difficult to diagnose. This is particularly true if none of the individual’s close family members are symptomatic or aware that they have the condition. Family members may be genetic carriers: they carry a copy of the defective HFE gene, but do not have the condition since most cases of hemochromatosis only manifest with symptoms if two copies are present. 

When symptoms arise, doctors can test for hemochromatosis through blood tests that measure transferrin saturation and serum ferritin, both of which indicate the level of iron stored in the body. Conducting genetic tests on a patient’s blood samples can also be used to diagnose hemochromatosis. Other times, doctors will conduct a liver biopsy, which can reveal damage related to hemochromatosis. 

Treatment & Therapy 

Being diagnosed and treated for hemochromatosis during its early onset is crucial, and can prevent serious damage, including liver cirrhosis, liver cancer, and heart failure that can occur from complications later on.

The condition is highly responsive to treatment that removes any excess iron from the patient’s body. Phlebotomy treatment is simple, and involves removing moderate amounts of blood—about half a liter—from the patient’s body at regular intervals. This leads to a gradual decrease in the body’s iron levels. 

For patients unable to undergo phlebotomy, chelation therapy provides an alternative treatment. Chelating agents bind to heavy metals, which are then excreted from the body, removing, in the case of hemochromatosis, iron from the body. 

The third option of surgery becomes viable at later stages of hemochromatosis. End-stage liver disease may be addressed with a liver transplant. If severe arthropathy (inflammation of the joints) seems to be progressing to joint destruction, replacing or reconstructing the joint may become necessary. 

Prevention & Prophylaxis

It is near impossible to prevent hereditary hemochromatosis, although some people present without symptoms and will never develop serious complications. Others can manage the symptoms they have with treatment, provided they are aware that they have the condition. 

People who are aware of hemochromatosis in their family should consider genetic testing, especially if they are planning to start a family. Genetic testing can help determine whether one or both parents are carriers, as well as the likelihood of passing the defective HFE genes to offspring. 

In addition, individuals with a family history of hemochromatosis should carefully monitor their diet. The list below details certain foods that are especially risky for individuals at risk of developing hemochromatosis.

  • Red Meat: Red meat contains high levels of heme iron, the most absorbable form of the metal. 
  • Animal Fats: Fats, or lipids, combined with excess iron in the body, can destroy cells and damage DNA. 
  • Vitamin C: Iron absorption is enhanced by vitamin C. This is also true of sugar-rich foods and beverages. 
  • Alcohol: Not only does alcohol increase iron absorption, but it also damages the liver. Liver damage from both excess iron and alcohol may have devastating effects on the patient. 
  • Raw shellfish: The bacterium Vibrio vulnificus, which may be present in raw shellfish, could be fatal to people with high iron levels. 

On the other hand, individuals at risk or suffering from hemochromatosis should increase their consumption of fruits and vegetables, which have antioxidants; nuts, grains, beans, and rice, which have fiber; and coffee and tea, which are rich in tannins. All of these impair iron absorption. With these steps, individuals will be able to keep their condition under control and lead a normal life.