Hemochromatosis

What is hemochromatosis?

Summary

Hemochromatosis is a condition where there is too much iron in the body. Most commonly, this occurs due to faulty genes (usually the HFE gene) in iron regulation. When the disease is due to genetic reasons, it is called Hereditary Hemochromatosis (HH). HH is a lifelong (chronic) disease, while other causes of hemochromatosis — too many blood transfusions, diseases that destroy red blood cells, and taking too many iron supplements — resolve with treatment and time.

Symptoms include liver disease, diabetes, skin discoloration, arthritis, and heart failure. However, if treated, these symptoms can be mostly or completely avoided.

Hemochromatosis can be diagnosed with blood testing. It is treated by medical phlebotomy (bloodletting), chelating agents (metal binders), and a low-iron diet.

Recommended care

You should visit your primary care physician for diagnostic blood tests (too look at your iron stores). Depending on severity, your treatment could range from watchful waiting to lifestyle changes to donating blood to reduce the iron levels.

Hemochromatosis symptoms

Main symptoms

In cases of HH, symptoms typically manifest in midlife. For non-hereditary cases, symptoms can manifest at any time. The hallmark symptoms include:

• High blood sugar (hyperglycemia): Symptoms include thirst, fatigue, nausea/vomiting, and frequent urination.
• Skin bronzing: The increased iron deposits in the skin, leading to a bronze-colored pigmentation.
• Cirrhosis: Replacement of normal liver cells with fibrous bands, causing liver damage and possibly liver failure.

Other symptoms

Other, less common symptoms include:

• Arthritis
• Fatigue
• Erectile dysfunction

Complications

Complications of hemochromatosis include the following, which can affect various body systems.

• Diabetes: The insulin-producing cells of the pancreas are damaged and can lead to high blood sugar that may require injectable insulin if the damage is extensive.
• Hepatocellular carcinoma: Cancer of the liver.
• Cardiomyopathy: This is damage to the heart muscle which can lead to heart failure (inadequate pumping of blood to the body).
• Pericarditis: Inflammation of the sac surrounding the heart leading to chest pain.
• Hypogonadism: Insufficient production of hormones by the ovaries or testicles, leading to decreased levels of estrogen and testosterone, respectively.
• Hypopituitarism: Insufficient production of hormones by the pituitary gland.
• Infections

Hemochromatosis causes

Hemochromatosis can be caused by either genetic or environmental causes. Both mechanisms of the disease lead to elevated blood levels of iron. It is the increased amount of iron that causes the symptoms of hemochromatosis because the excess iron gets deposited in almost every tissue in the body.

Genetic causes

Hereditary hemochromatosis (HH) is one of the most common diseases of white people. Most commonly, hemochromatosis is caused by inheriting a genetic mutation (error) that causes the body to mishandle the iron it receives from food. There are many possible mutations that can cause hereditary hemochromatosis, but the majority of people with HH have a mutation called C2823Y in the gene called HFE. This causes a two- to three-fold increased absorption of iron from food.

The best way to diagnose the disease is through a liver biopsy. However, MRI images, genetic testing and laboratory testing can also help the diagnosis. There are, however, other genetic causes of HH that do not result from mutation of the HFE gene:

• African iron overload
• Juvenile hemochromatosis
• Neonatal hemochromatosis
• Aceruloplasminemia
• Transfusional siderosis

Environmental causes

The non-genetic causes of hemochromatosis are:

• Excessive dietary iron intake: This includes taking too many iron supplement pills.
• Excessive blood transfusions
• Chronic dialysis
• Chronic liver disease: This can occur hepatitis C, alcoholism, or fatty liver disease.
• Porphyria cutanea tarda
• Sideroblastic anemia

Treatment options and prevention for hemochromatosis

If treatment begins early, people can expect to lead a normal life with normal life-expectancy. However, if treatment is delayed until after diabetes, cirrhosis, hypogonadism, or hypopituitarism develop, these processes cannot be reversed.

Therapeutic phlebotomy (bloodletting)

One of the mainstay treatments of hemochromatosis is therapeutic phlebotomy (bloodletting), which is when blood is removed from the body. This serves to decrease overall iron stores and is a generally safe and effective practice. Therapeutic phlebotomy is generally performed once the iron level is high enough. Typically, one unit of blood is taken per week initially until the blood iron level is slightly below normal. Thereafter, therapeutic phlebotomy is performed as needed depending on the blood iron level. This method of treatment requires routine blood laboratory testing to ensure that an appropriate amount of blood is being removed from the body. On average, men require therapeutic phlebotomy twice as often as women do. It may take more than a year to normalize body iron levels.

Medication

For people who cannot receive therapeutic phlebotomy, a drug called an iron chelator can be given. Deferoxamine, an iron chelator, acts to bind iron, soaking it up from the blood and allowing it to be removed from the urine and feces.

Dietary changes

People with hemochromatosis should never take iron supplement pills. You should also restrict your intake of vitamin C. In addition, you should limit your consumption of red meat since it has a high iron content. You should also avoid alcohol since it increases the chance of liver damage in people with hemochromatosis. Some advise the avoidance of raw shellfish since it can cause an infection in people with hemochromatosis.

Prevention

The genetic causes of HH cannot be prevented because they are inherited. However, there are certain measures that can be taken to lessen the severity of the disease. For example, people with HH should never take iron supplements and should follow the dietary modifications listed in the previous section. Regular care from a physician who treats HH should be obtained in order to prevent permanent complications from HH.

On the other hand, the environmental causes of hemochromatosis are more preventable. For each type of environmental cause, the prevention strategy is given below:

• Excessive dietary iron intake: Avoid excessive iron supplements.
• Excessive blood transfusions: Physicians should monitor and limit the amount of blood you receive or consider giving you iron chelators.
• Chronic liver disease: The underlying cause of liver disease should be managed.
• Porphyria cutanea tarda: This will likely be treated with bloodletting and medication.
• Sideroblastic anemia: This will likely be treated with pyridoxine and iron chelation will be used if needed.

If you receive a diagnosis of HH, then it may be prudent for your relatives to undergo genetic testing to check for the disease before symptoms begin.

When to seek further consultation for hemochromatosis

You should seek further consultation if you notice your skin becoming more bronze. Other symptoms to watch out for include thirst, fatigue, nausea/vomiting, and frequent urination, which could indicate high blood sugar. If you already know you have hemochromatosis, the presence of these symptoms may indicate a need for therapeutic chelation (bloodletting). People with hemochromatosis should seek regular care with a physician who specializes in treating the disease so that they can be monitored long-term. This enables treatment of the disease as needed and before the symptoms begin. Monitoring may include blood tests, imaging, and biopsy.