Purpose of review: To overview inherited syndromes that affect platelets and to discuss current data on the molecular origin and management of these rare diseases.
Recent findings: An increasing number of genes responsible for inherited thrombocytopenias have been identified and these now extend to glycosylation defects. Although Glanzmann thrombasthenia remains the predominant disorder of platelet function, knowledge is increasing of pathologies concerning primary receptors for adhesion and signalling, the activation and secretory pathways, and even the development of procoagulant activity.
Summary: These syndromes affect cell adhesion, cell activation, and cell-to-cell contact interactions fundamental in cell biology. Studies on the pathophysiology of alphaIIbbeta3 in platelets have helped unravel the molecular mechanisms of integrin function, and the information gained has resulted in improved antithrombotic therapy. The establishment of national registries and the use of state-of-the-art genomic and proteomic technologies will accelerate progress and help to define how mutations affecting a much larger range of proteins contribute alone or in combination to defining specific platelet phenotypes.