Congenital platelet function disorders

Defects in platelet function comprise a heterogeneous group of disorders with bleeding symptoms ranging from mild bruising to severe mucocutaneous hemorrhage. Platelet function disorders can be classified according to their relationship to one or more of the stages of platelet thrombus formation, each of which is mediated by specific platelet membrane receptors. Rare genetic variants of these receptor genes can cause defects in platelet adhesion, activation, granule release, prothrombinase activity, aggregation, or clot retraction. Many of these disorders share common treatments, but some therapies have a greater efficacy for one patient relative to another and should be individualized to provide optimal symptom control. Currently, efforts are concentrated on developing methods to rapidly and accurately diagnose patients with platelet function disorders, taking advantage of accumulated and curated databases of genetic variants in candidate genes, and to improve therapy to prevent life threatening bleeding.