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Management and prognosis of Fanconi anemia

Timothy S Olson, MD, PhD
Section Editors
Donald H Mahoney, Jr, MD
Stanley L Schrier, MD
Deputy Editor
Alan G Rosmarin, MD


Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by pancytopenia, predisposition to malignancy, and physical abnormalities including short stature, microcephaly, developmental delay, café-au-lait skin lesions, and malformations belonging to the VACTERL-H association. Diagnosis is usually made in childhood, although diagnostic delays and variable disease manifestations are common and some individuals may be diagnosed with FA in adulthood.

Management of patients with FA is challenging because hematopoietic stem cell transplantation (HCT) is curative for bone marrow failure and hematologic neoplasms but not for the non-hematologic features. Patients also require increased surveillance for both hematologic and non-hematologic malignancies, and reduced-intensity therapy is typically used for HCT and cancer treatment.

This topic review discusses the management and prognosis of FA. The clinical manifestations and diagnosis of FA is discussed in detail separately. (See "Clinical manifestations and diagnosis of Fanconi anemia".)

Separate topic reviews discuss the diagnosis and management of other inherited bone marrow failure syndromes:

Dyskeratosis congenita (DC) – (See "Dyskeratosis congenita and other short telomere syndromes".)

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Literature review current through: Oct 2017. | This topic last updated: Nov 03, 2017.
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