Journal
BLOOD REVIEWS
Volume 20, Issue 2, Pages 111-121Publisher
CHURCHILL LIVINGSTONE
DOI: 10.1016/j.blre.2005.08.001
Keywords
Bernard-Soulier syndrome; giant platelets; idiopathic; thrombocytopenic purpura; macrothrombocytopenia with leukocyte inclusions; May-Heggtin anomaly
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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. (C) 2005 Elsevier Ltd. All rights reserved.
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