Idiopathic hemochromatosis: An overview

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People with hemochromatosis may not develop any symptoms until they reach adulthood. They may have symptoms of the disease for up to 10 years before receiving a diagnosis.

Severe fatigue is one of the most common symptoms of IH. Other early symptoms of IH include joint pain and lethargy.

As iron begins to build up in tissues of the body, people may develop the following symptoms:

• indented shape in the nails, making a spoon-like curve
• diabetes
• skin discoloration, which occurs in over 90% of people with IH
• arthropathy, which is a type of joint disease
• changes in liver function, which may cause jaundice, abdominal pain, or liver enlargement
• heart issues, such as arrhythmias or congestive heart failure
• changes in hormone function, which may cause a reduced sex drive, erectile dysfunction, the absence of menstrual periods, or loss of body hair

People with IH also have an increased risk of certain infections and liver cancer.

Iron levels can take time to build up to harmful amounts in the body, so people may not have symptoms until they are 40 years or older or, in females, after menopause.

Learn about other types of hemochromatosis.

IH is a hereditary condition. It can occur due to a genetic mutation, usually in HFE genes, which control iron absorption in the body. The HFE gene mutations C282Y and H63D are the most common.

People need to inherit two of these gene mutations to have IH. This usually involves inheriting two copies of C282Y, which occurs in 85–90% of IH cases.

Another pattern is inheriting one C282Y gene and one H63D gene, which causes a milder case of IH.

In rare cases, mutations in other genes that help control iron levels can cause IH. Genetic mutations in HJV or HAMP genes, which are non-HFE genes, can cause more severe symptoms at an earlier age.

Risk factors for IH include being white, as the C282Y genetic mutation is more common in white people.

Males are affected as much as two to three times as often as females.

In people with the genetic mutations that cause IH, certain lifestyle factors may increase the risk of severe IH or complications. This includes:

• chronic liver disease, such as chronic hepatitis C
• heavy alcohol consumption

To diagnose IH, doctors take a full medical and family history and assess any symptoms.

To help rule out other conditions, doctors may take liver function tests and measure iron levels. If results suggest IH, doctors may carry out genetic testing to identify the genetic mutations that cause IH.

A liver biopsy may confirm findings. A biopsy can show the level of iron deposits in the liver.

The standard treatment for IH is phlebotomy. This is the removal of blood with a needle.

Red blood cells store iron, so reducing red blood cells through phlebotomies can help lower iron levels to normal levels.

To begin with, people may need to have one to two phlebotomies a week, removing 500 milliliters (mL) of blood each time. People may need around 50–100 phlebotomies to restore normal iron levels.

Once iron levels return to normal, people receive maintenance phlebotomies throughout their lifetime. These are less frequent and may occur around three to four times each year.

If phlebotomy is not a suitable treatment option, other methods of reducing iron levels may include chelation. Chelation uses substances to bond to metals in the body, such as iron, so the body can excrete them.

Chelation drugs for iron overload may include intravenous treatment with deferoxamine, or oral treatment with deferiprone or deferasirox.

Doctors may also prescribe the hormone erythropoietin alongside phlebotomy to regulate hemoglobin levels in the blood.

Without treatment, IH may lead to severe complications, such as cirrhosis, liver failure, or liver cancer.

Doctors may recommend phlebotomy to help prevent complications.

People need to continue phlebotomy treatment throughout their lifetime to manage iron levels with IH.

Reducing iron levels with phlebotomy can help resolve symptoms such as fatigue, insulin sensitivity, and skin discoloration. However, phlebotomy does not affect cirrhosis, arthropathy, or hypogonadism.

People with IH need to avoid alcohol. Alcohol use can worsen toxicity in the liver or pancreas.

Phlebotomy cannot reverse any existing organ damage, but early treatment may help prevent organ dysfunction and lead to positive outcomes.

It is not possible to prevent IH because it is an inherited condition that occurs due to genetic mutations.

Early diagnosis and treatment can help restore normal iron levels and prevent high iron levels from causing complications, though.

If people have a close relative, such as a parent, sibling, or child, with IH, they can receive genetic testing to check for the condition.

Secondary hemochromatosis is an iron overload that occurs due to excess iron in the diet, or excess iron in the body from blood transfusions, such as to treat severe anemia.

Neonatal hemochromatosis is another type. It is very rare. It happens if liver injury occurs to a fetus in the womb, which causes excess iron to build up in the organs of the fetus.

IH is an inherited condition that causes an iron overload in the body. Without treatment, it can lead to complications such as liver disease.

Symptoms of IH usually include fatigue, lethargy, and joint pain. People often have skin discoloration.

Treatment for IH typically involves phlebotomy to withdraw blood and reduce red blood cells, which store iron. People need ongoing treatment to maintain normal iron levels.

Early diagnosis and treatment for IH can help return iron levels to normal. Treatment can also help prevent disease progression and complications.