Congenital

Table 10-12 lists the congenital disorders causing defective platelet function. Table 10-13 lists the differential laboratory features in inherited disorders of platelet function. Table 11-22 (Chapter 11) lists the genetic transmission and primary and alternative treatment of hereditary disorders of platelet function.

Defects in Platelet Receptor-Agonist Interaction

1. Selective impairment in platelet responsiveness to adrenaline: The interaction of platelets with adrenaline in in vitro aggregation tests is mediated by a2-adrenergic

Table 10-12. Classification of Congenital Platelet Function Disorders

Defects in platelet-agonist interaction (receptor defects) Selective adrenaline defect Selective collagen defect Selective thromboxane A2 defect Selective ADP defect Defects in platelet-vessel wall interaction (disorders of adhesion) von Willebrand's disease (deficiency or defect in plasma VWF) Bernard-Soulier syndrome (deficiency or defect in GPIb) Defects in platelet-platelet interaction (disorders of aggregation) Congenital afibrinogenemia

Glanzmann thrombasthenia (deficiency or defect in GPIIb/IIIa) Disorders of platelet secretion Storage pool deficiency 8-Storage pool deficiency Hermansky-Pudlak syndrome Chediak-Higashi syndrome a-Storage pool deficiency (gray platelet syndrome) a8-Storage pool deficiency

May Hegglin anomaly and MYH9-related disease Abnormalities in arachidonic acid pathway Impaired liberation of arachidonic acid Cyclooxygenase deficiency Thromboxane synthetase deficiency Altered nucleotide metabolism Glycogen storage disease Fructose-1,6-diphosphonate deficiency Primary secretion defect with normal granule stores and normal thromboxane synthesis Defects in calcium mobilization Defects in phosphatidylinositol metabolism Defects in myosin phosphorylation Disorders of platelet-coagulant protein interaction Defect in factor Va-Xa interaction on platelets Platelet factor 3 deficiency (Alport syndrome) Vascular or connective tissue defect Ehlers-Danlos syndrome Pseudoxanthoma elasticum Marfan syndrome Osteogenesis imperfecta

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)

Table 10-13. Laboratory Findings in Inherited Platelet Function Disorders

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