Thorough History and Assessment
Since Fanconi anemia is an extremely rare disease, the reader is urged to contact the FA specialists listed in our International Treatment and Testing Resource Guide for the most current protocols in the diagnosis and treatment of Fanconi anemia.
Refer also to Fanconi Anemia: Guidelines for Diagnosis and Management for more information.
Approximately half of FA patients respond well to androgens (male hormones), which stimulate the production of red blood cells, and often, platelets. Sometimes white cell production is stimulated as well. This treatment may be effective for many years, but most patients eventually fail to respond. It is essential that the use of androgens is considered in the context of an eventual bone marrow transplant, as their use may affect adversely the ultimate success of a transplant.
Hematopoietic (blood-stimulating) growth factors are also used. G-CSF stimulates the production of white blood cells and seems to be effective in FA patients. Other growth factors may be effective in combination.
Bone Marrow Transplantation
At the present time, this is the only long-term cure for the blood defects in FA. This treatment has many risks associated with it, and the risks are compounded in FA patients because of their extreme sensitivity to radiation and chemotherapy. The consensus of the physicians who participated in 2008 in the development of the book Fanconi Anemia: Guidelines for Diagnosis and Management is that, if a transplant center has had experience with fewer than five matched sibling donor transplants for FA or five unrelated donor transplants for FA, strong consideration should be given for referral to a transplant center with significant experience in transplants for FA. FA patients often experience complications which are not routine for other transplants, such as a marked increased risk in organ toxicity and in graft-versus-host disease (GVHD) and development of glucose intolerance, with most FA patients requiring insulin therapy.
Information provided on this page about medications, treatments or products should not be construed as medical instruction or scientific endorsement. Always consult your physician before taking any action based on this information.
Tumor Testing, Clinical Trials, and Other Research Opportunities
Finding more effective treatments and a cure for FA depends on research. FA patients are encouraged to consider utilizing molecular diagnostic testing at OHSU Knight Diagnostic Laboratories, participating in clinical trials and other research opportunities. These opportunities are designed to further the study of FA and, in some cases, provide cutting-edge treatment to patients. The gene therapy clinical trial in Seattle is open for FA-A individuals 4 year old or older. In addition, all families affected by FA are asked to contribute to FA research through research sample donation. The National Disease Research Interchange (NDRI) is the Fund's partner in biospecimen sample collection.