title: Increased risk of venous thrombosis in carriers of natural anticoagulant deficiencies. Results of the family studies of the Spanish Multicenter Study on Thrombophilia (EMET study).
abstract: Several studies have demonstrated a higher risk of thrombosis in carriers of anticoagulant deficiencies than in non-deficient individuals from families with thrombophilia. The prevalences in Spain were established in a multicenter study (the EMET study) and all the deficient individuals were invited to recruit all available family members to be screened for the same deficiency in order to establish the risk of thrombosis in deficient individuals. Five-hundred-and-eighty-three individuals from 114 families with natural anticoagulant deficiencies were analysed. Propositi and relatives with a history of thrombosis were asked about the localization and the age at the first episode and whether or not it was spontaneous. Three families with antithrombin deficiency, 35 with protein C, 60 with protein S, four with plasminogen, four with heparin cofactor II, seven with combined deficiencies and one family with dysfibrinogenemia were included in the analysis. The risk of thrombosis was increased for individuals deficient in antithrombin (adjusted odds ratio 21.23; 95% confidence interval 5.71-78.94), protein C (adjusted odds ratio 12.62; 95% confidence interval 4.75-33.51), protein S type I (adjusted odds ratio 19.95; 95% confidence interval 7.40-53.82), protein S type III (adjusted odds ratio 8.11; 95% confidence interval 2.66-21.99) or in protein C plus protein S (adjusted odds ratio 8.99; 95% confidence interval 2.79-28.93), but not for those deficient in plasminogen or heparin cofactor II. The thrombosis-free survival was shortened for deficient individuals in antithrombin (median 30 years), protein C (median 46 years), protein S type-I (median 48 years), protein S type III (median 61 years) and combined protein C and S (median 40 years). In conclusion, individuals carrying anticoagulant deficiencies have an increased risk of thrombosis, especially those with antithrombin, protein C or type I protein S deficiencies.
authors.affiliation: Haematology Department, Hospital de Sant Pau, Barcelona, Spain. jmateo@santpau.es
authors.forename: J
authors.initials: J
authors.lastname: Mateo
authors.forename: A
authors.initials: A
authors.lastname: Oliver
authors.forename: M
authors.initials: M
authors.lastname: Borrell
authors.forename: N
authors.initials: N
authors.lastname: Sala
authors.forename: J
authors.initials: J
authors.lastname: Fontcuberta
mesh_terms: D000328:Adult; D000367:Age Factors; D001778:Blood Coagulation Disorders / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D018570:Risk Assessment; D012737:Sex Factors; D013030:Spain / Q000453:epidemiology; D019851:Thrombophilia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D013924:Thrombophlebitis / Q000097:blood / Q000453:epidemiology / Q000235:genetics*