Treatment

How is FA treated?

Since FA is an extremely rare disease with a unique set of complications, it is recommended that whenever possible, patients be cared for at selected centers with comprehensive care clinics specific to FA.

FA may affect multiple systems of the body. People with FA may experience hematologic issues (including bone marrow failure and/or leukemia), endocrine (hormone) disorders, arms and hand abnormalities, gynecological and/or dermatological issues, difficulties with nutrition and/or hearing, and increased risk of solid tumors (cancer), especially of the head and neck.

The best resource for information detailing the numerous complications caused by FA is the Fanconi Anemia: Guidelines for Diagnosis and Management. Each chapter covers an issue listed above. Some FA patients respond well to androgens (male hormones), which stimulate the production of red blood cells, and often, platelets. Hematopoietic (blood-stimulating) growth factors may also be used to stimulate the production of white blood cells.

Bone Marrow Failure

An allogeneic hematopoietic stem cell transplantation (HSCT) is a medical procedure that destroys the stem cells in a patient’s bone marrow and replaces them with stem cells from a matched or partially matched related or unrelated donor’s bone marrow. At the present time, bone marrow transplantation is the only long-term cure for the blood defects in FA. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problems associated with FA, still must have regular examinations to watch for signs of cancer.

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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 and participating in clinical trials and other research opportunities. These opportunities are designed to further the study of FA and, in some cases, provide treatment option to patients.

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.

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.