Hemochromatosis

Diagnosis

Diagnosis and tests

Hemochromatosis and iron overload can be difficult to diagnose. Early symptoms such as stiff joints and fatigue are commonly caused by other conditions.

Many people with the disease don't have any symptoms other than high levels of iron in their blood. Hemochromatosis may be identified because of irregular blood test results after testing is done for other reasons.

Diagnosis criteria on what's considered iron overload can differ depending on where testing is done. But when blood test results are higher than expected, a genetic test may be done to check for the gene mutation that causes hereditary hemochromatosis. This test also may be done when screening family members of people diagnosed with the disease.

An MRI or liver biopsy may be done to check iron levels in the liver and check for organ damage, if suspected.

Blood tests

There's no single hemochromatosis blood test. But a number of blood tests, sometimes called labs, may be done to screen for iron overload. Two key tests to screen for iron overload are:

• Serum transferrin saturation. This test measures the amount of iron bound to the protein transferrin that carries iron in the blood. Different testing laboratories use different values of what's too high. But a transferrin saturation value of 45% or more often is considered too high. If high, a serum ferritin test may be done.
• Serum ferritin.This test measures the amount of iron stored in the liver. Different testing laboratories use different values of what's too high. But a value of more than 200 or 300 micrograms per liter often is considered high for people assigned male at birth. And more than 150 or 200 micrograms per liter often is considered high for people assigned female at birth.

These blood tests for iron may be done after fasting. Elevations in one or all of these tests can be found in other conditions. You may need to have the tests repeated for the most accurate results.

Additional testing

A healthcare professional may suggest other tests to confirm the diagnosis and to look for other problems:

• Liver function tests. These tests can help identify liver damage.
• MRI and ultrasound. An MRI is a fast and noninvasive way to measure the degree of iron overload in the liver. This test may be done to check iron levels in the liver and confirm organ damage, if suspected. Sometimes MRI is combined with ultrasound in a test called magnetic resonance elastography. Or ultrasound is done alone. These tests help measure how stiff liver tissue is from scarring.
• Genetic test. Testing DNA for changes in the HFE gene is recommended if there are high levels of iron in the blood. If you're considering genetic testing for hemochromatosis, discuss the reasons for and against testing with your healthcare professional or a genetic counselor.
• Removing a sample of liver tissue for testing. If liver damage is suspected, a liver biopsy may be done. During a liver biopsy, a sample of tissue is removed from the liver using a thin needle. The sample goes to a lab to be checked for the presence of iron. The lab also looks for evidence of liver damage, especially scarring or cirrhosis. Risks of biopsy 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 gene change is found in only one parent, then children do not need to be tested.

Treatment

There is no cure for hemochromatosis. But hemochromatosis treatments, which are the same as other iron overload treatments, can help manage the condition and stop it from causing more harm. They include:

• Blood removal. This is also called therapeutic phlebotomy.
• Medicine to remove extra iron from the body, but only if phlebotomy is not an option for you. This treatment is called chelation.
• Dietary changes. To reduce the risk of complications from hemochromatosis, do not take iron supplements or vitamin C supplements. And do not eat raw seafood. If you have liver damage, cut out alcohol completely. Other foods with iron usually are OK.

Blood removal

Medical professionals can treat hemochromatosis safely and effectively by removing blood from the body on a regular basis. The process, called therapeutic phlebotomy, is similar to blood donation.

The goal is to lower iron levels. Phlebotomy lowers iron levels because much of the body's iron is contained in red blood cells. The amount of blood removed and how often it's removed depend on age, overall health and the severity of iron overload.

Side effects are usually mild. They mainly include symptoms that last a short time after phlebotomy. These may include feeling dizzy or like you might faint, nausea, vomiting, sweating, rapid breathing, or low blood pressure. You also may have bruising in the area where the needle is placed in your arm.

• Initial treatment schedule. In the beginning, around a pint (about 470 milliliters) of blood may be taken once or twice a week — usually in a hospital or medical professional's office. You lean back in a chair while a needle is placed into a vein in the arm. The blood flows from the needle into a tube that's attached to a blood bag.
• Maintenance treatment schedule. Once iron levels go down, blood can be removed less often, typically every 2 to 4 months. Some people may need to have blood removed more or less often. The schedule depends on how quickly iron builds up in the body. Some people may maintain typical iron levels without having any blood taken.

Donating blood is not a replacement for therapeutic phlebotomy. This is because your healthcare professional needs to test your iron levels and adjust phlebotomy treatments as needed.

Treating hemochromatosis can help relieve symptoms of tiredness, heart changes and skin darkening. It can help prevent serious complications such as liver disease, heart disease and diabetes. If you already have one of these conditions, phlebotomy may slow the progression of the disease.

Phlebotomy can't reverse joint pain, but it can slow the progression.

For someone with cirrhosis, a healthcare professional may recommend occasional screening for liver cancer. This usually involves an abdominal ultrasound and CT scan.

Chelation for those who can't undergo blood removal

Phlebotomy may not be an option for someone who has certain conditions, such as some anemias or heart complications. Instead, a healthcare professional may suggest a medicine, such as deferoxamine (Desferal) or deferasirox (Exjade, Jadenu), to remove excess iron. The medicine binds excess iron, allowing the body to get rid of iron through urine or stool in a process called chelation (kee-LAY-shun). Chelation medicines can be injected into the body or taken as a pill. Chelation is not commonly used in hemochromatosis.

Dietary changes

In addition to therapeutic blood removal, lifestyle changes may further reduce the risk of complications from hemochromatosis.

• Don't take iron supplements and multivitamins containing iron. These can increase iron levels even more.
• Don't take vitamin C supplements. Vitamin C increases absorption of iron. But there's usually no need to restrict vitamin C in your diet.
• Don't drink alcohol. Alcohol increases the risk of liver damage in people with hemochromatosis. If you have hemochromatosis and you already have liver disease, don't drink any alcohol.
• Don't eat raw fish and shellfish. People with hemochromatosis are at risk of infections, particularly those caused by certain bacteria in raw fish and shellfish.

Additional diet changes generally aren't needed for people receiving blood removal treatment.

Dietary changes cannot replace phlebotomy treatment. Phlebotomy is critical to remove the excess iron from the blood.

Preparing for your appointment

Make an appointment with someone on your primary healthcare team if you have any symptoms that worry you. You may be referred to a specialist in digestive diseases, called a gastroenterologist, or to another specialist, depending on your symptoms. Here's some information to help you get ready for your appointment, and what to expect.

What you can do

• Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet.
• Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
• Write down key personal information, including any major stresses or recent life changes. Learn if you have any liver disease in your family by asking your family members, if possible.
• Make a list of all medicines, vitamins or supplements that you're taking.
• Take a family member or friend along to help you remember what's been discussed.
• Write down questions to ask during your appointment.

Questions to ask your doctor

Some basic questions to ask include:

• What's the most likely cause of my symptoms?
• What kinds of tests do I need?
• Is my condition temporary, or will I always have it?
• What treatments are available? And what do you suggest for me?
• I have other health conditions. How can I best manage these conditions together?
• Are there any restrictions that I need to follow?
• Are there any brochures or other printed material that I can take with me? What websites do you recommend?

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Be ready to answer questions your care team may ask:

• When did your symptoms start?
• Have your symptoms been continuous, or do they come and go?
• How severe are your symptoms?
• Does anything seem to improve your symptoms?
• What, if anything, appears to make your symptoms worse?
• Does anyone in your family have hemochromatosis?
• How many alcoholic beverages do you drink in a week?
• Are you taking iron supplements or vitamin C?
• Do you have a history of viral hepatitis, such as hepatitis C?
• Have you had blood transfusions before?