What is ITP and does it have a genetic component?
ITP is an autoimmune disease which is diagnosed by exclusion. There is not a unique marker or finding, since many autoimmune disorders have a component of thrombocytopenia. Although many other autoimmune diseases are inherited and despite a rare instance of familial ITP, there is no evidence that ITP is genetic in origin. Classically, it was believed that the low platelet count in ITP was solely due to antibody-mediated platelet destruction. We now know that the majority of patients also have a deficiency in bone marrow production of platelets. Stasi R, Evangelista ML, Stipa E, Buccisano F, Venditti A, Amadori S.Idiopathic thrombocytopenic purpura:current concepts in pathophysiology and management. Thromb Haemost. 2008;99(1):4-13. Psaila B, Bussel JB. Immunethrombocytopenic purpura. Hematol Oncol Clin North Am. 2007;21(4):743-759.
