Inherited Platelet Disorders: A Modern Approach to Evaluation and Treatment

Abstract

The inherited platelet disorders are a heterogeneous group of disorders that can be pleotropic in their clinical presentations. They may present with variable platelet counts and bleeding, making their diagnosis difficult. New diagnostic tools range from flow cytometric platelet function assessments to next-generation sequencing. Several platelet disorders may now be treated with gene therapy or bone marrow transplant. Improved understanding of the molecular and biologic mechanisms of the inherited platelet disorders may lead to novel targeted therapies.

Keywords: Familial platelet disorders; Inherited platelet disorders; Inherited thrombocytopenia; Macrothrombocytopenia; Platelet function disorders; Storage pool deficiency.