Inherited thrombocytopenias

Abstract

Inherited thrombocytopenias with progression to bone marrow failure represent a rare but clinically significant category of bone marrow failures. The patients are usually diagnosed in the newborn period, and they are often mistaken for more common acquired causes of thrombocytopenia. Disorders within this disease group are characterized by ineffective megakaryopoiesis and thrombopoiesis, but vary in their clinical features and causative molecular defects. Great progress has been made to identify the genetic mutations associated with these disorders, which has improved diagnostic and therapeutic approaches as well as genetic counseling. This chapter reviews the pathophysiology, diagnosis, and management of inherited thrombocytopenia disorders highlighting congenital amegakaryocytic thrombocytopenia (CAMT) and thrombocytopenia absent radius (TAR) as two disorders traditionally classified as inherited bone marrow failure syndromes. Thorough evaluation and accurate diagnosis result in more targeted therapies and appropriate family counseling.