Inherited thrombophilia.
Inherited thrombophilia can be defined as a genetically determined predisposition to the development of thromboembolic complications. Since the discovery of activated protein C resistance in 1993, several additional disorders have been described and, at present, it is possible to identify an inherited predisposition in about 60 to 70% of patients with such complications. These inherited prothrombotic risk factors include qualitative or quantitative defects of coagulation factor inhibitors, increased levels or function of coagulation factors, defects of the fibrinolytic system, altered platelet function, and hyperhomocysteinemia. In this review, the main inherited prothrombotic risk factors are analyzed from epidemiological, laboratory, clinical, and therapeutic points of view. Finally, we discuss the synergism between genetic and acquired prothrombotic risk factors in particular conditions such as childhood and pregnancy.
Servizio di Immunoematologia e Trasfusione, Azienda Ospedaliera di Verona, Verona, Italy. mfranchini@univr.it
Massimo
M
Franchini
Dino
D
Veneri
Gian Luca
GL
Salvagno
Franco
F
Manzato
Giuseppe
G
Lippi
D000347:Afibrinogenemia; D019774:Blood Coagulation Factor Inhibitors / Q000172:deficiency*; D001779:Blood Coagulation Factors / Q000032:analysis / Q000235:genetics; D002675:Child, Preschool; D020147:Coagulation Protein Disorders / Q000097:blood / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D005260:Female; D005342:Fibrinolysis; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015844:Heparin Cofactor II / Q000172:deficiency; D006801:Humans; D008297:Male; D011247:Pregnancy; D012307:Risk Factors; D019851:Thrombophilia / Q000097:blood / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D013925:Thromboplastin / Q000172:deficiency
D019774:Blood Coagulation Factor Inhibitors; D001779:Blood Coagulation Factors; D015844:Heparin Cofactor II; D013925:Thromboplastin