Diagnóstico clínico y de laboratorio de la anemia de Fanconi

Fanconi anemia (FA) is a genetic disease, either autosomal or X-linked recessive, which presents with pancytopenia, congenital malformations and predisposition to cancer. There are 15 known complementation groups that correspond to defects in 15 different genes involved in the pathway FA/BRCA which is responsible for the response to DNA damage. Clinical diagnosis is difficult because it is a heterogeneous entity that shares characteristics such as alterations of the radial axis, aplastic anemia and retarded growth, that overlap with those seen in other diseases such as the association VATER/VACTERL, Diamond-Blackfan anemia and Nijmegen syndrome. Laboratory diagnosis is based on the analysis of chromosomal aberrations either spontaneous and/or induced by diepoxybutane in peripheral blood, bone marrow or in fibroblasts. This test is considered the gold standard. This article discusses the clinical features to be considered by the first contact physician to suspect FA, as well as the specific cytogenetic study to confirm the diagnosis