How Is Fanconi Anemia Treated?

Doctors decide how to treat Fanconi anemia (FA) based on a person's age and how well or how poorly the person's bone marrow is making new blood cells.

Goals of Treatment

Long-term treatments for FA can:

• Cure the anemia. Damaged bone marrow cells are replaced with healthy ones that can make enough of all three types of blood cells on their own. —Or—
• Treat the symptoms without curing the cause. This is done using medicines and other substances that can help your body make more blood cells for a limited time.

Observation and Short-Term Treatment

If you or your child has FA, but your bone marrow is still able to make enough new blood cells, your doctor may do frequent blood count checks.

During this time of observation, your doctor will probably want you to have bone marrow tests once a year. Your doctor also will screen you closely for any signs of cancer or tumors.

If your blood counts begin to drop sharply and stay low, your doctor may assume your bone marrow is failing. He or she may give you antibiotics to help your body fight infections.

In the short term, your doctor also may want to give you blood transfusions to increase your blood cell counts to normal levels. However, long-term use of blood transfusions can reduce the chances that other treatments, which can help your body make enough blood cells on its own, will work.

Long-Term Treatment

The four main types of long-term treatment for FA are:

• Blood and marrow stem cell transplant
• Androgen therapy
• Synthetic growth factors
• Gene therapy

Blood and Marrow Stem Cell Transplant

A blood and marrow stem cell transplant is the current standard treatment for patients who have FA that's causing major bone marrow failure. Healthy stem cells from another person, called a donor, are used to replace the faulty cells in your bone marrow.

If you're going to receive stem cells from another person, your doctor will want to find a donor whose stem cells match yours as closely as possible.

Stem cell transplant is most successful in younger people who:

• Have few or no serious health problems
• Receive stem cells from a brother or sister who is a good donor match
• Have had few or no previous blood transfusions

During the transplant, you'll get donated stem cells in a procedure that's like a blood transfusion. Once the new stem cells are in your body, they travel to your bone marrow and begin making new blood cells.

A successful stem cell transplant will allow your body to make enough of all three types of blood cells to work normally. However, even if you've had a stem cell transplant to treat FA, you'll still be at risk for some types of blood cancer and cancerous solid tumors. Your doctor will check your health regularly and often after the procedure.

For more information about stem cell transplants, including finding a donor, having the procedure, and complications, see the Diseases and Conditions Index Blood and Marrow Stem Cell Transplant article.

Androgen Therapy

Before improvements made stem cell transplants more effective, androgen therapy was the standard treatment for people who had FA. Androgens are artificial male hormones that can help your body make more blood cells for long periods.

Androgens are effective at increasing your red blood cell and platelet counts. They don't work as well at increasing your white blood cell count.

Unlike a stem cell transplant, androgens don't allow your bone marrow to make enough of all three types of blood cells on its own. You may need ongoing treatment with androgens to control the effects of FA. Also, over time, androgens lose their ability to help your body make more blood cells, which means you'll need other treatments.

Androgen therapy can have serious side effects, such as liver disease. This treatment also can't prevent you from developing leukemia (a type of blood cancer).

Synthetic Growth Factors

Your doctor may choose to treat your FA with growth factors. These are substances found in your body, but they also can be man-made.

Growth factors help your body make more red and white blood cells. Growth factors that can help your body make more platelets are still being researched.

More studies are needed on growth factor treatment for FA. Early results suggest that growth factors may have fewer and less serious side effects than androgens.

Gene Therapy

Researchers are looking for ways to replace faulty FA genes with normal, healthy genes. They believe that the replacement genes will be able to make the proteins needed to repair and protect your bone marrow cells.

Early results hold promise, but this form of treatment for FA is still in the experimental stage.

Surgery

Surgery may be needed to improve the use of arms, thumbs, hips, legs, and other parts of the body that aren't formed right because of birth defects caused by FA.

If your child is born with a ventricular septal defect—a hole in the wall that separates the lower chambers of the heart—he or she may need surgery to close the hole so the heart can work properly.

Children who have FA also may need surgery to correct digestive system problems that can harm their nutrition, growth, and survival.

One of the most common problems is an FA-related birth defect in which the trachea (windpipe), which carries air to the lungs, is connected to the esophagus, which carries food to the stomach.

This can cause serious breathing, swallowing, and eating problems and can lead to lung infections. Surgery is needed to separate the two organs to allow normal eating and breathing.