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.
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
Was this article helpful?
Rosacea and Eczema are two skin conditions that are fairly commonly found throughout the world. Each of them is characterized by different features, and can be both discomfiting as well as result in undesirable appearance features. In a nutshell, theyre problems that many would want to deal with.