Doctors decide how to treat Fanconi anemia (FA) based on a person's age and how well 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.
- 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.
Screening and Short-Term Treatment
Even if you or your child has FA, your bone marrow might still be able to make enough new blood cells. If so, your doctor might suggest frequent blood count checks so he or she can watch your condition.
Your doctor will probably want you to have bone marrow tests once a year. He or she also will screen you for any signs of cancer or tumors.
If your blood counts begin to drop sharply and stay low, your bone marrow might be failing. Your doctor may prescribe antibiotics to help your body fight infections. In the short term, he or she 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 chance that other treatments will work.
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 transplants are 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.
Even if you've had a stem cell transplant to treat FA, you’re still at risk for some types of blood cancer and cancerous solid tumors. Your doctor will check your health regularly after the procedure.
For more information about stem cell transplants—including finding a donor, having the procedure, and learning about the risks—go to the Health Topics Blood and Marrow Stem Cell Transplant article.
Before improvements made stem cell transplants more effective, androgen therapy was the standard treatment for people who had FA. Androgens are man-made male hormones that can help your body make more blood cells for long periods.
Androgens increase your red blood cell and platelet counts. They don't work as well at raising 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 help your body make more platelets still are being studied.
More research is needed on growth factor treatment for FA. Early results suggest that growth factors may have fewer and less serious side effects than androgens.
Researchers are looking for ways to replace faulty FA genes with normal, healthy genes. They hope these genes will make proteins that can repair and protect your bone marrow cells. Early results of this therapy hold promise, but more research is needed.
FA can cause birth defects that affect the arms, thumbs, hips, legs, and other parts of the body. Doctors may recommend surgery to repair some defects.
For example, your child might be born with a ventricular septal defect—a hole or defect in the wall that separates the lower chambers of the heart. His or her doctor may recommend 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 and allow normal eating and breathing.