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Fanconi anemia

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Chapter 44 Congenital Anemia FANCONI ANEMIA (FA) osms.it/fanconi-anemia PATHOLOGY & CAUSES ▪ Autosomal recessive/X-linked disorder of chromosome fragility causing inherited bone marrow failure syndrome, macrocyticnormochromic anemia, pancytopenia Physical abnormalities ▪ Short stature, malformations associated with the VACTERL-H (vertebral, anal, cardiac, tracheoesophageal, renal, limb and hydrocephalus) association ▫ Microcephaly, congenital heart disease, imperforate anus, conductive deafness, hypogenitalia, cafe-au-lait spots CAUSES ▪ Mutation of several genes responsible for DNA repair ▫ Impaired cellular repair of DNA crosslinks → impaired regulation of cell cycle, genomic instability → hematopoietic stem cell loss → macrocyticnormochromic anemia → bone marrow aplasia → pancytopenia ▫ Predisposition for development of blood/ solid tumor malignancies ▪ Bone marrow biopsy usually normocellular at birth ▪ Macrocytic-normochromic anemia and other cytopenias develop gradually → usually diagnosed within ﬁrst eight years of life COMPLICATIONS ▪ Neutropenia: life-threatening infections ▪ Thrombocytopenia: bleeding tendencies ▪ Malignancies: e.g. myelogenous leukemia, myelodysplastic syndrome, solid tumors ▪ Endocrine derangements: hypothalamicpituitary axis disruption during fetal development ▪ Congenital anomalies SIGNS & SYMPTOMS ▪ Cytopenias develop → clinical manifestations → increased bruising/ bleeding, frequent infections ▪ Symptomatic anemia related to impaired oxygen-carrying capacity develops late in disease DIAGNOSIS ▪ History, physical examination LAB RESULTS ▪ CBC assessment, bone marrow examination FA testing indicators ▪ Evidence of single-/multilineage cytopenias with no other identiﬁed cause ▫ ↓ absolute neutrophil count, platelet count, absolute reticulocyte count, hemoglobin ▪ Hypocellular bone marrow (without evidence of malignancy/other known cause) ▪ Congenital anomalies ▪ Family history: people of Ashkenazi Jewish descent have ↑ carrier frequency FA-speciﬁc testing ▪ Chromosome DEB assay ▫ Laboratory test for chromosomal breakage performed on leukocytes (indicates chromosome instability syndrome; not FA-speciﬁc) ▪ Cytometric ﬂow analysis ▫ Examines cellular growth, division; cytometry following DNA crosslinking shows cells unable to repair DNA damage, cellular arrest in cell cycle G2 phase ▪ Chromosomal breakage test positive → FA gene sequencing recommended OSMOSIS.ORG 371

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