title: Usefulness of antithrombin deficiency phenotypes for risk assessment of venous thromboembolism: type I deficiency as a strong risk factor for venous thromboembolism.
abstract: Inherited antithrombin deficiency, an established risk factor for venous thromboembolism (VTE), can be classified into type I (quantitative deficiency) or type II (qualitative deficiency). In the present study, we assessed the VTE risk associated with the phenotypes of antithrombin deficiency in patients admitted to our hospital. We found that patients with type I deficiency (n = 21) had more VTE events and earlier onset of VTE than those with type II deficiency (n = 10). The VTE-free survival analysis showed that the risk for VTE in patients with type I deficiency was sevenfold greater than that in patients with type II deficiency (hazard ratio: 7.3; 95% confidence interval: 1.9-12.2; P = 0.0009). The prevalence of type I deficiency in the VTE group (5.6%, 6/108) was higher than that in the general population (0.04%, 2/4,517) (odds ratio: 132.8; 95% confidence interval: 26.5-666.1; P < 0.0001). However, the prevalence of type II deficiency was not different between the VTE group and the general population. Our study indicated that the risk for VTE in patients with type I deficiency was much higher than that in patients with type II deficiency. Thus, simple phenotypic classification of antithrombin deficiency is useful for assessment of VTE risk in Japanese.
authors.affiliation: Laboratory of Clinical Chemistry, National Cerebral and Cardiovascular Center, Suita, Osaka, 565-8565, Japan.
authors.forename: Mana
authors.initials: M
authors.lastname: Mitsuguro
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Sakata
authors.forename: Akira
authors.initials: A
authors.lastname: Okamoto
authors.forename: Sachika
authors.initials: S
authors.lastname: Kameda
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Kokubo
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Tsutsumi
authors.forename: Michitaka
authors.initials: M
authors.lastname: Sano
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Miyata
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D020152:Antithrombin III Deficiency / Q000150:complications* / Q000453:epidemiology / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D015995:Prevalence; D012189:Retrospective Studies; D012307:Risk Factors; D054556:Venous Thromboembolism / Q000209:etiology*; D055815:Young Adult