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Blood, 15 January 2004, Vol. 103, No. 2, pp. 390-398.
Prepublished online as a Blood First Edition Paper on September 22, 2003; DOI 10.1182/blood-2003-05-1742.
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REVIEWS IN TRANSLATIONAL HEMATOLOGY
Inherited thrombocytopenia: when a low platelet count does not mean ITP
Jonathan G. Drachman
From the Puget Sound Blood Center, Seattle WA; and Department of Medicine, University of Washington, Seattle.
Congenital thrombocytopenias, once considered rare and obscure conditions, are today recognized with increasing frequency, especially due to the measurement of platelet number as part of routine blood testing. The clinical spectrum of congenital thrombocytopenia ranges from severe bleeding diatheses, recognized within the first few weeks of life, to mild conditions that may remain undetected even in adulthood. For the latter group of diseases, distinguishing between inherited (primary) and acquired (secondary) thrombocytopenia, especially immune thrombocytopenia purpura (ITP), is essential to avoid unnecessary and potentially harmful treatments. In this review, the congenital thrombocytopenia syndromes are discussed with specific attention focused on diagnostic criteria, clinical presentations, genetic etiology, and current medical management. The mutated genes responsible for each syndrome are reviewed as well as the potential implications for using gene therapy or gene repair in the future.
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