title: [Update thrombophilia].
abstract: A survey on definitions, epidemiology, clinical manifestations of congenital and acquired thrombophilias is given with focus on evidence-based data. Diagnostic and therapeutical strategies are presented. Selective thrombophilia screening based on previous personal and/or family history of venous thromboembolism is more cost-effective than universal screening in all patient groups. In the majority of patients with venous thrombosis the results of thrombophilia screening do not influence the duration of oral anticoagulation. The only patient population who clearly profits from thrombophilia screening in this situation are patients with a newly diagnosed antiphospholipid syndrome, because prolonged anticoagulation can avoid the high incidence of recurrence in this patient population. Because of the increased risk of venous thrombosis during pregnancy and the puerperium, thrombophilia screening is indicated in selected patients with a previous history of venous thrombosis to be able to decide whether anticoagulation is necessary when these patients become pregnant. Significant associations with early and late pregnancy loss are observed for patients with thrombophilia while it remains unknown whether these patients profit from anticoagulation with heparin or low dose aspirin during their next pregnancy since placebo-controlled multicenter trials are not yet available.
authors.affiliation: Med. Klinik III, Schwerpunkt Angiologie/Hämostaseologie, Klinikum der J. W. Goethe- Universität Frankfurt am Main. Lindhoff-Last@em.uni-frankfurt.de
authors.forename: E
authors.initials: E
authors.lastname: Lindhoff-Last
authors.forename: B
authors.initials: B
authors.lastname: Luxembourg
authors.forename: I
authors.initials: I
authors.lastname: Pabinger
mesh_terms: D005165:Factor V / Q000235:genetics; D005169:Factor VIII / Q000378:metabolism; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D013917:Thrombin / Q000235:genetics; D013923:Thromboembolism / Q000209:etiology; D019851:Thrombophilia / Q000145:classification* / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D020246:Venous Thrombosis / Q000453:epidemiology
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D005169:Factor VIII; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D013917:Thrombin