Treatment Options

Fanconi anemia patients are at risk for certain cancers and need to be monitored by their physician and be educated on way to minimize their future risk. Additionally, FA patients have a defect in their DNA repair and should minimize unnecessary exposure to DNA damaging agents.

Bone Marrow Transplantation

The only currently proven treatment for FA patients suffering from aplastic anemia (bone marrow failure) is a bone marrow transplant. The standard care for an FA patient eligible for a bone marrow transplant is allogeneic transplantation. Allogeneic transplantation refers to a transplant in which the blood cells come from someone other than the patient (the donor). This form of transplant has been used to treat FA patients suffering from aplastic anemia; however, transplants have been less successful when the donor is not related to the patient compared to a transplant where the blood cells are from a related donor, usually a sibling. This poses a significant problem because very often the patient will not have an appropriate related donor. In addition, any allogeneic transplant presents the risk of graft versus host disease (GVHD) or graft rejection, in which the transplanted donor cells react against the patient (GVHD) or the patients remaining immune system mounts a response to the transplanted donor cells (graft rejection). While there are available treatments that can be administered before, during, and after transplant to reduce the risk of GVHD and graft rejection, these therapies have associated toxicity and their dosing must often be modified for FA patients.

Gene Replacement Therapy

Dr. Hans-Peter Kiem, a medical oncologist and scientific investigator at the Fred Hutchinson Cancer Research Center, is researching another alternative known as gene replacement therapy for patients diagnosed with FA in complementation groups A and C. This type of therapy uses the patients own blood cells that have been corrected for either the A or C complementation group defect. More specifically, the FA patient’s bone marrow cells are collected and a correct copy of the FA gene that was mutated is stably transferred to the cells.  These “corrected” bone marrow cells are then transplanted back into the patient. Because these cells come from the patient, the risk of an immune reaction, like GVHD or graft rejection, is lower.  Also, the corrected cells have an advantage to survive over non-corrected cells once the transplant is complete. The hope is that this survival advantage will allow corrected cells to continue supporting the bone marrow and blood system of the patient and decrease the risk of aplastic anemia relapse.

Hormone Therapy

Patients who don’t have an HLA-matched donor or who may be not be good candidates for bone marrow transplantation may be able to receive hormone, or androgen, therapy, which may improve blood counts (in about half of patients). Treatment plans are developed individually for each patient and modifications to treatment are made as new information becomes available. Changes in red blood cell counts can be seen in the first two months. Improvements in white cell and platelet counts may take longer, between six and 12 months.

Side effects of androgen therapy include elevated liver enzymes, cholestasis, and other problems. Other side effects include acne, oily skin, enlarged penis/clitoris, hoarse or deep voice, hair growth or loss, decreased growth, behavior changes, hot flashes, breast enlargement, fluid retention, and secondary hypertension. Receiving androgen therapy puts these patients at increased risk for liver tumors in the future.

Hematopoietic growth factors

Therapy with growth factors such as G-CSF has shown to improve neutrophil counts. Some patients see improvements in red cell and platelet counts as well. This may not be appropriate treatment for all patients.