Hemochromatosis – Diagnosis and treatment (2023)

Diagnosis

Hemochromatosis can be difficult to diagnose. Early symptoms such as joint stiffness and fatigue may be caused by conditions other than hemochromatosis.

Many people with the condition have no symptoms other than high levels of iron in their blood. Hemochromatosis can be detected because of irregular blood test results after the test is taken for other reasons. It can also be revealed in screening family members of people diagnosed with the disease.

blood tests

The two main tests to detect iron overload are:

• Serum transferrin saturation.This test measures the amount of iron that is bound to the protein transferrin that transports iron in the blood. Transferrin saturation values ​​greater than 45% are considered very high.
• Serum ferritin.This test measures the amount of iron stored in the liver. If your serum transferrin saturation test results are higher than normal, your doctor may check your serum ferritin.

These blood tests for iron are best done after fasting. Elevations in one or all of these tests can be found in other disorders. You may need to repeat the tests for more accurate results.

additional tests

Your doctor may recommend other tests to confirm the diagnosis and look for other problems:

• Liver function tests.These tests can help detect liver damage.
• MRI.AMRIis a quick and non-invasive way of measuring the degree of iron overload in the liver.
• Screening for genetic alterations.Testing your DNA for changes in the HFE gene is recommended if you have high levels of iron in your blood. If you are considering genetic testing for hemochromatosis, discuss the pros and cons with your doctor or genetic counselor.
• Removal of a sample of liver tissue for examination.If your doctor suspects liver damage, he may order a liver biopsy. During a liver biopsy, a tissue sample is removed from the liver using a fine needle. The sample goes to a laboratory to check for the presence of iron. The lab also looks for evidence of liver damage, especially scarring or cirrhosis. Biopsy risks include bruising, bleeding, and infection.

Screening healthy people for hemochromatosis

Genetic testing is recommended for all parents, siblings and children of anyone diagnosed with hemochromatosis. If a genetic change is found in only one parent, the children do not need to be tested.

Treatment

blood removal

Healthcare professionals can safely and effectively treat hemochromatosis by regularly removing blood from the body. This is similar to donating blood. The procedure is known as phlebotomy.

The goal of phlebotomy is to lower iron levels. The amount of blood removed and how often it is removed depends on your age, general health and the severity of the iron overload.

• Initial treatment program.At first, you may have half a liter (about 470 milliliters) of blood drawn once or twice a week — usually at a hospital or your doctor's office. As you lean back in a chair, a needle is inserted into a vein in your arm. Blood flows from the needle into a tube connected to a blood bag. The process of removing blood is known as therapeutic blood removal.
• Maintenance treatment program.When iron levels are low, blood may be drawn less frequently, usually every 2 to 3 months. Some people can maintain normal iron levels without a blood test. Some may need monthly blood tests. The schedule depends on how quickly iron builds up in your body.

Treating hemochromatosis can help relieve symptoms of fatigue, upset stomach, and darkening of the skin. It can help prevent serious complications such as liver disease, heart disease and diabetes. If you already have one of these conditions, phlebotomy can slow the progression of the condition. In some cases, it can even be reversed.

Phlebotomy cannot reverse cirrhosis or joint pain, but it can slow progression.

If you have cirrhosis, your doctor may recommend occasional tests for liver cancer. This usually includes an abdominal ultrasound andTCScan.

Chelation for those who cannot draw blood

Phlebotomy may not be an option if you have certain medical conditions, such as anemia or heart complications. Instead, your doctor may recommend a medication to remove excess iron. The drug can be injected into the body or taken in pill form. The drug binds to excess iron, allowing your body to excrete the iron through your urine or stool in a process called chelation (KEE-lay-shun). Chelation is not commonly used in hemochromatosis.

Lifestyle and home remedies

In addition to therapeutic blood removal, you can further reduce your risk of complications from hemochromatosis if you:

• Avoid iron supplements and multivitamins that contain iron.This can further increase your iron levels.
• Avoid vitamin C supplements.Vitamin C enhances the absorption of iron. However, you usually don't need to limit vitamin C in your diet.
• Avoid alcohol.Alcohol significantly increases the risk of liver damage in people with hemochromatosis. If you have hemochromatosis and already have liver disease, avoid alcohol altogether.
• Avoid eating raw fish and shellfish.People with hemochromatosis are at risk of infections, especially those caused by certain bacteria in raw fish and shellfish.

Additional dietary changes are usually not necessary for people receiving blood removal therapy.

Preparing for your appointment

Make an appointment with your doctor if you have symptoms that worry you. You may be referred to a specialist in digestive disorders, called a gastroenterologist, or another specialist, depending on your symptoms. Here is some information to help you prepare for your appointment and what to expect.

What can you do

• Please note any pre-booking restrictions.When you make the appointment, ask ahead of time if there is anything you need to do, such as restricting your diet.
• List any symptoms you experience,including anything that may seem unrelated to why you made the appointment.
• Record basic personal information,including any major stressors or recent life changes. Find out if you have any liver disease in your family by asking your family members if possible.
• Make a list of all medications,vitamins or supplements you take.
• Take a family member or friend alongto help you remember what was discussed.
• Write the questions that will be askedduring your consultation.

Questions to ask your doctor

Some key questions to ask include:

• What is the most likely cause of my symptoms?
• What kind of tests do I need?
• Is my condition temporary or will I have it forever?
• What treatments are available? And what do you recommend?
• I have other health problems. How can I best manage these conditions together?
• Are there any restrictions I need to follow?
• Are there any brochures or other printed material I can take with me? What sites do you recommend?

Please feel free to ask further questions during your consultation.

What to expect from your doctor

Be prepared to answer questions the provider may ask:

• When did you start having symptoms?
• Have your symptoms been constant or do they come and go?
• How severe are your symptoms?
• Does anything seem to improve your symptoms?
• What seems to make your symptoms worse?
• Does anyone in your family have hemochromatosis?
• How many alcoholic drinks do you drink per week?
• Do you take iron or vitamin C supplements?
• Do you have a history of viral hepatitis such as hepatitis C?
• Have you ever needed blood transfusions in the past?