Treatment:

If the blood cell changes are mild to moderate and a transfusion isn't needed, many doctors recommend a period of watching with frequent blood count checks and yearly bone marrow exams. Doctors will also watch for secondary cancers. In the short term, taking growth factors (such as erythropoietin, G-CSF, and GM-CSF) can improve blood counts. Researchers are studying other growth factors to stimulate platelets.

A bone marrow transplant can cure the blood count problems of Fanconi's anemia. A HLA matched sibling is the best donor source. Other sources are blood cells from the umbilical cord and bone marrow from an unrelated person. A bone marrow transplant is very effective. Although there can be side effects from this treatment, the care of people with Fanconi's tends to improve during the transplant. The success rate is high for people who have a donor.

Even though a successful bone marrow transplant can cure the bone marrow problems from Fanconi's anemia, people with this condition are at risk for other cancers and must be regularly checked by a doctor.

Before bone marrow transplantation, the standard treatment was hormone therapy combined with low doses of steroids (hydrocortisone, prednisone). Doctors use this approach on people who do not have a bone marrow donor. Most patients respond to hormone therapy. But everyone with the disorder will quickly relapse when the drug is stopped. In most cases, these drugs eventually stop working.

Transfusions or antibiotics can treat symptoms due to low blood counts, such as bleeding, infections, or anemia that causes symptoms (fatigue, shortness of breath, chest pain, dizziness). People with low amounts of white blood cells called neutrophils who develop a fever are usually treated with antibiotics through a vein.

Most people with this condition visit a blood disorder specialist (hematologist), a doctor who treats diseases related to glands (endocrinologist), and an eye doctor (ophthalmologist) regularly. They also may see a bone doctor (orthopedist), gynecologist, or kidney disease specialist (nephrologist) as needed.

Expectations (prognosis):

The reported survival of patients with Fanconi's anemia can vary from person to person. The prognosis is poor in people with low blood counts. New and improved treatments, such as bone marrow transplants, have likely improved survival.

Although bone marrow transplants can restore blood counts, people with Fanconi's anemia are still more likely to get several types of cancers (including leukemia, myelodysplastic syndrome, and liver cancer).

Women with Fanconi's anemia who become pregnant should be watched carefully by a doctor. They often need transfusions throughout pregnancy. Men with Fanconi's anemia have decreased fertility, although a small number have fathered children.