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Clinical manifestations and diagnosis of Fanconi anemia

Timothy S Olson, MD, PhD
Section Editors
Donald H Mahoney, Jr, MD
Stanley L Schrier, MD
Deputy Editor
Jennifer S Tirnauer, 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 not be diagnosed with FA until adulthood.

Determining whether FA is the cause of bone marrow failure has important implications for management because individuals with FA require increased surveillance for hematologic and non-hematologic malignancies and other organ dysfunction, and dramatically reduced doses of chemotherapy for treating malignancies and in the preparative regimen for hematopoietic cell transplantation (HCT). Additionally, the presence of FA must be confirmed or excluded when evaluating siblings as HCT donors, so that the patient does not receive hematopoietic stem cells from a sibling with FA.

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

Separate topic reviews also present a general overview of the evaluation of bone marrow failure in children and adults, and discuss the diagnosis and management of other specific inherited and acquired causes of bone marrow failure:

General approach (child) – (See "Acquired aplastic anemia in children and adolescents".)

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Literature review current through: Oct 2017. | This topic last updated: Jul 06, 2017.
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