title: Congenital macrothrombocytopenias.
abstract: Congenital macrothrombocytopenias comprise a heterogeneous group of rare disorders, characterized by abnormal giant platelets, thrombocytopenia and bleeding tendency with variable severity. Many of these disorders share common clinical and laboratory features, making accurate diagnosis difficult and patients are often misdiagnosed with and treated for idiopathic thrombocytopenic purpura. Recent progress in the elucidation of underlying defects and further developments of specific diagnostic techniques for several congenital macrothrombocytopenias have renewed our approach to the classification and the diagnosis of the disease. This review summarizes the current knowledge on the clinical and laboratory features of common congenital macrothrombocytopenias and discusses how that knowledge aids in making a proper diagnosis.
authors.affiliation: Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan. kunishis@nnh.hosp.go.jp
authors.forename: Shinji
authors.initials: S
authors.lastname: Kunishima
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Saito
mesh_terms: D001792:Blood Platelets / Q000473:pathology; D048429:Cell Size; D003937:Diagnosis, Differential; D005189:False Positive Reactions; D006470:Hemorrhage / Q000145:classification / Q000151:congenital / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000145:classification / Q000151:congenital / Q000175:diagnosis / Q000473:pathology; D013921:Thrombocytopenia / Q000145:classification* / Q000151:congenital / Q000175:diagnosis* / Q000473:pathology