title: Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
abstract: Thrombocytopenia in the newborn period can signify an inherited platelet disorder. Congenital amegakaryocytic thrombocytopenia (CAMT) and thrombocytopenia with absent radii (TAR) share features of isolated thrombocytopenia, reduced or absent marrow megakaryocytes, impaired responsiveness to thrombopoietin (TPO), and high plasma TPO levels. These disorders are most readily distinguished from each other by the finding of radial aplasia in TAR and the presence of c-MPL mutations in CAMT. In addition, their long-term outcomes are strikingly different: the development of trilineage marrow failure in CAMT in contrast to the general improvement of thrombocytopenia in TAR. The differential diagnosis for CAMT and TAR also includes other congenital disorders in which thrombocytopenia and radial abnormalities can be seen. In this article we will review our molecular and clinical understanding of these two inherited disorders of amegakaryocytosis.
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology-Oncology, University of California San Diego, La Jolla, CA, USA. ageddis@ucsd.edu
authors.forename: Amy E
authors.initials: AE
authors.lastname: Geddis
mesh_terms: D019070:Cell Lineage; D006801:Humans; D008533:Megakaryocytes / Q000473:pathology*; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011884:Radius / Q000002:abnormalities*; D018121:Receptors, Cytokine / Q000235:genetics; D053628:Receptors, Thrombopoietin; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
chemical_list: D011518:Proto-Oncogene Proteins; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human