Hemochromatosis

Hemochromatosis is a condition where the body stores too much iron. Normally, the body controls the absorption of iron from food, but in hemochromatosis, too much iron is absorbed, which accumulates in organs such as the liver, heart, and joints. This accumulation can lead to serious problems such as liver damage, heart problems, joint pain and general weakening of the body.

Hemochromatosis is often an inherited disease, meaning it occurs within families. It is usually caused by a genetic disorder that causes the body to absorb more iron than it needs. That's why it's important that family members, such as parents, brothers, sisters, or children of someone with hemochromatosis, get tested to ensure possible early diagnosis and treatment.

In addition to the hereditary form, hemochromatosis can also occur as a result of other disorders, 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 storage in the body, the cause lies outside a genetic mutation.

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

There are usually no symptoms of hemochromatosis. If symptoms do occur, they are often the following:

• Fatigue
• Weak standing on the legs
• Joint pain such as knees, hips, shoulders, neck, etc.
• The skin becomes darker due to the accumulation of iron

Complications

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

• Liver damage: this can lead to liver cirrhosis and liver cancer
• Heart rhythm disorders and heart weakening
• Thyroid problems
• High blood sugar (diabetes mellitus) due to iron accumulation in the pancreas
• In men: difficulty getting an erection
• For women: the rules stay away or are irregular

Hemochromatosis is an inherited disease. A child can only get haemochromatosis if both parents are carriers or patients of this disorder. A carrier is someone who has the gene that causes the disease but who is not ill himself.

From birth, more iron is continuously absorbed from food than the body needs. However, complaints only arise in adulthood. This is because the body can actually make good use of the extra iron during growth.

Blood tests

Transferrin saturation - ferritin

The diagnosis of hemochromatosis can be made via a blood test. Your doctor can have the lab measure the iron saturation (transferrin saturation) in your blood. In patients with haemochromatosis, there is always a high level of iron saturation (> 45%). In addition, the ferritin content is also determined. If there is too much iron in the body, the body's cells will produce more ferritin. Ferritin is a protein that ensures the safe storage of iron in the body's cells.

DNA research

If you have too much iron in your blood, a special blood test may be requested to determine whether there is hereditary haemochromatosis. This is a DNA test that is performed on the blood. DNA testing is a genetic test that detects the gene that causes hemochromatosis.

Other blood tests

Other blood values may also be disturbed in patients with hemochromatosis:

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

Imaging

MRI liver

An MRI scan is sometimes done to image the iron accumulation in the liver.

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

An infusion is usually given before you go into the scanner. You must also be sober for 4 hours to create the scanner. This means that you are not allowed to eat or drink 4 hours before the appointment.

If you have a pacemaker or defibrillator, you cannot use the MRI scanner and alternatives will be looked at.

Abdominal ultrasound

An abdominal ultrasound is an ultrasound that shows the organs in the abdomen by using sound waves. The liver, but also the pancreas, the bladder, the kidneys, the spleen, etc. can be viewed with this.

Fibroscan

To measure the damage that the iron accumulation has already caused to the liver, a fibroscan can be done. A fibroscan is an examination that measures the stiffness of the liver. The more scar tissue, the stiffer the liver.

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No treatment

Not all patients with hemochromatosis require treatment. Your doctor may do a blood test regularly and if the iron level becomes too high in the blood, treatment can be started.

Bloodletting

Blood is removed from your body at regular intervals (bloodletting). Taking blood out of someone's body also lowers the level of iron in your blood.

First, there is a phase where blood is often taken (initiation phase); once the iron level in your blood has returned to normal, more time can be left between the different bloodlets (follow-up phase). Most people with hemochromatosis need bloodletting for life.

Other treatments

If the hemochromatosis leads to other complications such as diabetes mellitus, medication will also be started for this.

Regular monitoring

If you have liver problems caused by hemochromatosis, good monitoring is necessary. This is necessary because it has been proven that patients who have liver problems due to hemochromatosis have a higher chance of developing liver cancer.

If you have not been to a consultation with a gastrointestinal, intestinal or liver doctor for a long time, it is best to make an appointment. According to the latest guidelines, an annual consultation at the Liver Diseases Department is recommended. The contact details for this service can be found on the back of this brochure.

Living with hemochromatosis: some issues to consider

Patients with hemochromatosis should take into account a few points of attention:

• It is best to avoid taking iron supplements, vitamin supplements containing extra iron and taking extra vitamin C. Ask your pharmacist for advice.
• If your liver is affected by the accumulation of iron, it is best to drink alcohol sparingly.
• If you have hemochromatosis and want to have children, it is best to talk to your doctor or nurse about this. There is a chance that the baby will develop haemochromatosis. If your baby has the genetic gene, he or she will not have any symptoms or need treatment until they are adults.

Learn more about Hemochromatosis here [uptodate.com]

Read more about Hemochromatosis here [mlds.nl]