Inherited thrombocytopenias are a heterogeneous group of disorders with different degrees of severity and complexity deriving from mutations in at least 25 genes. Only a few inherited thrombocytopenias are characterized by recurrent spontaneous hemorrhages due to a very low platelet count and/or associated platelet dysfunction, while the other forms expose patients to the risk of bleeding in connection with hemostatic challenges. Some of the genetic abnormalities resulting in thrombocytopenia also cause additional congenital defects. Moreover, some common forms of inherited thrombocytopenia predispose to acquire in childhood or adult life additional serious diseases, as bone marrow aplasia, hematological malignancies, or kidney failure. Making a definite diagnosis is difficult and requires a close collaboration of clinicians, lab technicians, and geneticists. Many therapeutic measures are available both for preventing and stopping bleeding. Different treatments are available also for many congenital or acquired defects that may associate with thrombocytopenia.
Platelets in Thrombotic and Non-Thrombotic Disorders Pathophysiology, Pharmacology and Therapeutics: an Update
BALDUINI, CARLO;MELAZZINI, FEDERICA;PECCI, ALESSANDRO
2017-01-01
Abstract
Inherited thrombocytopenias are a heterogeneous group of disorders with different degrees of severity and complexity deriving from mutations in at least 25 genes. Only a few inherited thrombocytopenias are characterized by recurrent spontaneous hemorrhages due to a very low platelet count and/or associated platelet dysfunction, while the other forms expose patients to the risk of bleeding in connection with hemostatic challenges. Some of the genetic abnormalities resulting in thrombocytopenia also cause additional congenital defects. Moreover, some common forms of inherited thrombocytopenia predispose to acquire in childhood or adult life additional serious diseases, as bone marrow aplasia, hematological malignancies, or kidney failure. Making a definite diagnosis is difficult and requires a close collaboration of clinicians, lab technicians, and geneticists. Many therapeutic measures are available both for preventing and stopping bleeding. Different treatments are available also for many congenital or acquired defects that may associate with thrombocytopenia.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.