The defective prothrombin consumption in Bernard-Soulier syndrome. Hypotheses from 1948 to 1982.
Bernard-Soulier syndrome (BSS) was described in 1948 as a constitutional platelet disorder characterized by giant sized platelets, a prolonged bleeding time, and a defect in prothrombin consumption. The accurate mechanisms of these abnormalities remain unexplained, especially the defect in prothrombin consumption on which we focus in this paper. Several hypotheses are proposed: firstly, a defective reaction between the platelet membrane, where the phospholipid composition is abnormal, and the proteins which initiate thromboplastin generation such as collagen, factor XI; secondly, an abnormal reaction between thrombin, whose synthesis is increased, and its receptor, possibly glycoprotein V, which is defective; lastly, as factor VIII/vW binding is diminished, an abnormal dissociation of the complex VIII/vW-VIIIc at the site of the platelet membrane, which leads to an inactivation of factor VIIIc.
D001665:Binding Sites; D001778:Blood Coagulation Disorders / Q000097:blood*; D001792:Blood Platelets / Q000648:ultrastructure*; D002462:Cell Membrane / Q000378:metabolism; D003094:Collagen / Q000378:metabolism; D005165:Factor V / Q000378:metabolism; D005169:Factor VIII / Q000378:metabolism; D005172:Factor XI / Q000378:metabolism; D006023:Glycoproteins / Q000172:deficiency; D006801:Humans; D008565:Membrane Proteins / Q000172:deficiency; D010977:Platelet Factor 3 / Q000378:metabolism; D010980:Platelet Membrane Glycoproteins; D013917:Thrombin / Q000378:metabolism; D013920:Thrombocythemia, Essential / Q000097:blood*; D013921:Thrombocytopenia / Q000097:blood; D013925:Thromboplastin / Q000096:biosynthesis / Q000172:deficiency*
D006023:Glycoproteins; D008565:Membrane Proteins; D010980:Platelet Membrane Glycoproteins; D010977:Platelet Factor 3; D005165:Factor V; D005169:Factor VIII; D003094:Collagen; D005172:Factor XI; D013925:Thromboplastin; D013917:Thrombin