Hemochromatosis

Hemochromatosis is a condition in which the body stores too much iron. Normally, the body regulates the absorption of iron from food, but in hemochromatosis, too much iron is absorbed, causing it to accumulate in organs such as the liver, heart, and joints. This buildup can lead to serious problems such as liver damage, heart problems, joint pain, and general weakness.

Hemochromatosis is often an inherited disease, which means it runs in families. It is usually caused by a genetic abnormality that causes the body to absorb more iron than necessary. Therefore, it is important for family members—such as parents, siblings, or children of someone with hemochromatosis—to get tested to ensure early diagnosis and treatment.

In addition to the hereditary form, hemochromatosis can also occur as a result of other conditions, such as anemia or chronic liver disease. This form is called “secondary hemochromatosis” and is not hereditary. Although secondary hemochromatosis has the same effect on iron stores in the body, its cause is not a genetic mutation.

The additional information provided here focuses on the hereditary form of hemochromatosis. Early diagnosis and treatment, such as regular phlebotomy (bloodletting), are essential to reduce the buildup of iron in the body and prevent further damage to organs.

People usually do not experience any symptoms of hemochromatosis. If symptoms do occur, they are often the following:

• Fatigue
• Unsteady on one's feet
• Pain in the joints, such as the knees, hips, shoulders, neck, etc.
• The skin darkens due to the accumulation of iron

Complications

If hemochromatosis is left untreated, it can lead to the following complications:

• Liver damage: This can lead to cirrhosis and liver cancer
• Heart Rhythm Disorders and Heart Failure
• Thyroid Problems
• High blood sugar levels (diabetes mellitus) caused by iron buildup in the pancreas
• In men: difficulty getting an erection
• In women: periods are absent or irregular

Hemochromatosis is a hereditary disease. A child can only develop hemochromatosis if both parents are carriers or have the condition. A carrier is someone who has the gene that causes the disease but is not affected by it themselves.

From birth onward, the body continuously absorbs more iron from food than it needs. However, symptoms do not appear until adulthood. This is because the body actually benefits from the extra iron during growth.

Blood Test

Transferrin saturation - ferritin

Hemochromatosis can be diagnosed through a blood test. Your doctor can have the lab measure the iron saturation (transferrin saturation) in your blood. Patients with hemochromatosis always have high iron saturation (>45%). In addition, ferritin levels are also measured. When there is too much iron in the body, the body’s cells produce more ferritin. Ferritin is a protein that ensures the safe storage of iron in the body’s cells.

DNA testing

If you have too much iron in your blood, a special blood test can be ordered to determine whether you have hereditary hemochromatosis. This is a DNA test performed on a blood sample. A DNA test is a genetic test that identifies the gene responsible for hemochromatosis.

Other blood tests

Other blood test results may also be abnormal in patients with hemochromatosis:

• Liver function tests may be abnormal (AST, ALT, gamma-GT, alkaline phosphatase)
• Abnormal blood sugar levels (glucose, HbA1c)
• Abnormal thyroid levels (TSH)

Image Formation

Liver MRI

Sometimes an MRI scan is performed to visualize iron buildup in the liver.

During an MRI scan, you will lie inside a kind of tunnel that makes noise. You will be in contact with a nurse via the intercom and will have an alarm system in case you no longer feel comfortable inside the scanner.

An IV is usually administered before you go into the scanner. You must also fast for 4 hours before the scan. This means you should not eat or drink anything for 4 hours before your appointment.

If you have a pacemaker or defibrillator, you cannot undergo an MRI scan, and we will explore alternative options.

Abdominal Ultrasound

An abdominal ultrasound is an imaging test that uses sound waves to visualize the organs in the abdomen. It can be used to examine the liver, as well as the pancreas, bladder, kidneys, spleen, etc.

Fibroscan

To assess the damage that iron accumulation has already caused to the liver, a Fibroscan can be performed. A Fibroscan is a test that measures the stiffness of the liver. The more scar tissue there is, the stiffer the liver.

No treatment

Not all patients with hemochromatosis require treatment. Your doctor may perform regular blood tests, and if your blood iron levels become too high, treatment can be started.

Bloodletting

Blood is drawn from your body at regular intervals (bloodletting). Removing blood from the body also lowers the iron level in your blood.

First, there is a phase during which blood is often drawn (initial phase); once your blood iron levels return to normal, more time can be allowed between blood draws (follow-up phase). Most people with hemochromatosis require blood draws for the rest of their lives.

Other treatments

If hemochromatosis leads to other complications, such as diabetes mellitus, medication will also be prescribed to treat these conditions.

Regular monitoring

If you have liver problems caused by hemochromatosis, close monitoring is essential. This is necessary because it has been proven that patients with liver problems caused by hemochromatosis have a higher risk of developing liver cancer.

If it has been a long time since you last had a consultation with a gastroenterologist or hepatologist, you should make an appointment. According to the latest guidelines, an annual consultation at the liver diseases department is recommended. You will find the contact information for this department on the back of this brochure.

Living with hemochromatosis: a few things to keep in mind

Patients with hemochromatosis should keep the following points in mind:

• It is best to avoid taking iron supplements, vitamin supplements containing added iron, and extra doses of vitamin C. Consult your pharmacist for advice on this matter.
• If your liver has been damaged by iron buildup, you should be careful about how much alcohol you drink.
• If you have hemochromatosis and are planning to have a child, it’s best to discuss this with your doctor or nurse. There is a chance that the baby could develop hemochromatosis. If your baby carries the gene for this condition, he or she will not show any symptoms or require treatment until adulthood.

Read more about hemochromatosis here [uptodate.com]

Read more about hemochromatosis here [mlds.nl]