[Fanconi anemia in 2012: diagnosis, pediatric follow-up and treatment]

Fanconi anemia (FA) is a rare genetic disease, transmitted in an autosomal recessive mode. The clinical phenotype is very broad and heterogeneous, related to the wide range of genes involved in this pathology. The classical triad of short height, physical abnormalities, and bone marrow failure is suggestive. The main physical abnormalities found involve the limbs, spinal column, skin, kidneys and urinary tract, and the ORL zone. Recent progress in molecular biology has identified 15 genes whose mutation causes FA chromosomal instability. FA is diagnosed by cytogenetic examination, then specified by molecular analysis. As FA patients may present multiorgan abnormalities and a high risk for neoplasia development, their medical follow-up has to be multidisciplinary and prolonged throughout life. The main challenges of the follow-up are patient information and education. Bone marrow failure, appearing during the first decade, requires close hematological monitoring and for severe cases requires hematopoietic stem cell transplantation, major and specific care with frequent serious complications and high mortality, but this is the only curative treatment in FA. Extrahematological care consists in screening for organ abnormalities and defects as well as monitoring precancerous lesions and tumors.