Pregnant women may have amniocentesis or chorionic villous sampling to diagnose the condition in their unborn child.
Patients with mild to moderate blood cell changes who do not need a transfusion may only need regular check-ups and blood count checks. The health care provider will closely monitor the person for other cancers, usually leukemia or cancers of the head, neck, or urinary system.
Medicines called growth factors (such as erythropoietin, G-CSF, and GM-CSF) can improve blood counts for a short while.
A bone marrow transplant can cure the blood count problems of Fanconi's anemia. (The best donor is a brother or sister whose tissue type matches the patient.)
Persons who have had a successful bone marrow transplant still need regular check-ups because of the risk for additional cancers.
Hormone therapy combined with low doses of steroids (such as hydrocortisone or prednisone) is prescribed to those who do not have a bone marrow donor. Most patients respond to hormone therapy. But everyone with the disorder will quickly get worse when the drugs are stopped. In most cases, these drugs eventually stop working.
Additional treatments may include:
Antibiotics (possibly given through a vein) to treat infections
Blood transfusions to treat symptoms due to low blood counts
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).
The survival rates vary from person to person. The outlook is poor in those with low blood counts. New and improved treatments, such as bone marrow transplants, have likely improved survival.
Persons with Fanconi's anemia are more likely to develop several types of blood disorders and cancers, including leukemia, myelodysplastic syndrome, and cancer of the head, neck, or urinary system.
Women with Fanconi's anemia who become pregnant should be watched carefully by a doctor. Such women often need transfusions throughout pregnancy.
Men with Fanconi's anemia have decreased fertility.
Families with this condition can have genetic counseling to better understand their risk.
Bagby GC. Aplastic anemia and related bone marrow failure states. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 168.
Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.