Management and prognosis of Fanconi anemia
- Timothy S Olson, MD, PhD
Timothy S Olson, MD, PhD
- Assistant Professor of Pediatrics
- Comprehensive Bone Marrow Failure Center and Blood and Marrow Transplant Section
- Divisions of Pediatric Oncology and Hematology
- The Children's Hospital of Philadelphia and University of Pennsylvania
- Section Editors
- Donald H Mahoney, Jr, MD
Donald H Mahoney, Jr, MD
- Section Editor — Pediatric Hematology
- Professor of Pediatrics
- Baylor College of Medicine
- Stanley L Schrier, MD
Stanley L Schrier, MD
- Editor-in-Chief — Hematology
- Section Editor — Myeloproliferative Disorders; Red Cell Disorders
- Professor of Medicine
- Stanford University School of Medicine
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 malignancies 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 "Inherited aplastic anemia in children and adolescents", section on 'Dyskeratosis congenita'.)
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- OVERVIEW OF MAJOR MANAGEMENT ISSUES
- BONE MARROW FAILURE
- Monitoring bone marrow function
- Allogeneic hematopoietic stem cell transplantation (HCT)
- Transfusions and growth factors
- Therapies under development
- HEMATOLOGIC MALIGNANCIES
- SOLID TUMORS
- Screening and prevention
- Management with chemotherapy dose reductions
- IDENTIFICATION AND MANAGEMENT OF ORGAN DYSFUNCTION
- TESTING OF SIBLINGS AND MANAGEMENT OF HETEROZYGOTES
- SUMMARY AND RECOMMENDATIONS