What to do when you suspect an inherited platelet disorder. 2011

Michele P Lambert
The Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. lambertm@email.chop.edu

Inherited platelet disorders (IPDs) comprise a heterogenous group of diseases that include defects in platelet function and disordered megakaryopoiesis. Some IPDs overlap as both defects in function and thrombopoiesis, resulting in both altered aggregation and/or secretion and thrombocytopenia. This review examines the key features of the presentation of IPDs in children and adults and presents a diagnostic algorithm for the evaluation of these patients. In addition, recent advances in our understanding of the pathophysiology of platelet disorders are addressed, with attention given to some of the novel genetic associations. Finally, treatment options and future therapies are briefly discussed.

UI MeSH Term Description Entries
D001791 Blood Platelet Disorders Disorders caused by abnormalities in platelet count or function. Thrombocytopathy,Blood Platelet Disorder,Disorder, Blood Platelet,Disorders, Blood Platelet,Platelet Disorder, Blood,Platelet Disorders, Blood,Thrombocytopathies
D001792 Blood Platelets Non-nucleated disk-shaped cells formed in the megakaryocyte and found in the blood of all mammals. They are mainly involved in blood coagulation. Platelets,Thrombocytes,Blood Platelet,Platelet,Platelet, Blood,Platelets, Blood,Thrombocyte
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D030342 Genetic Diseases, Inborn Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. Hereditary Diseases,Genetic Diseases,Genetic Disorders,Hereditary Disease,Inborn Genetic Diseases,Single-Gene Defects,Defect, Single-Gene,Defects, Single-Gene,Disease, Genetic,Disease, Hereditary,Disease, Inborn Genetic,Diseases, Genetic,Diseases, Hereditary,Diseases, Inborn Genetic,Disorder, Genetic,Disorders, Genetic,Genetic Disease,Genetic Disease, Inborn,Genetic Disorder,Inborn Genetic Disease,Single Gene Defects,Single-Gene Defect

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