易栓症确切的发病率未知。 不过,已有遗传性易栓症流行病学方面的详实资料。遗传性易栓症影响高达 10% 的英国人口。 高达50%罹患静脉血栓栓塞 (VTE) 的白人有遗传性易栓症。据报告,多达 6% 的白人会受凝血因子 V Leiden突变(因子 V 的基因突变)的影响,2% 受凝血酶原基因突变的影响。[6]Ridker PM, Hennekens CH, Lindpaintner K, et al. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke and venous thrombosis in apparently healthy men. N Engl J Med. 1995;332:912-917.http://www.ncbi.nlm.nih.gov/pubmed/7877648?tool=bestpractice.com[7]Poort SR, Rosendaal FR, Reitsma PH, et al. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698-3703.http://www.bloodjournal.org/content/bloodjournal/88/10/3698.full.pdfhttp://www.ncbi.nlm.nih.gov/pubmed/8916933?tool=bestpractice.com这些突变在其他种族中都很少见。[8]Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346:1133-1134.http://www.ncbi.nlm.nih.gov/pubmed/7475606?tool=bestpractice.com[9]Dilley A, Austin H, Hooper WC, et al. Prevalence of the prothrombin 20210 G-to-A variant in blacks: infants, patients with venous thrombosis, patients with myocardial infarction and control subjects. J Lab Clin Med. 1998;132:452-455.http://www.ncbi.nlm.nih.gov/pubmed/9851733?tool=bestpractice.com[10]Dowling NF, Austin H, Dilley A, et al. The epidemiology of venous thromboembolism in Caucasians and African-Americans: the GATE study. J Thromb Haemost. 2003;1:80-87.http://www.ncbi.nlm.nih.gov/pubmed/12871543?tool=bestpractice.com但大多数的突变携带者都无明显症状。抗凝血酶、蛋白 C 和蛋白 S 缺乏较少见,发生率不超过 0.02%(抗凝血酶)、0.4%(蛋白 C)和 0.13%(蛋白 S)。[11]Franco RF, Reitsma PH. Genetic risk factors of venous thrombosis. Hum Genet. 2001;109:369-384.http://www.ncbi.nlm.nih.gov/pubmed/11702218?tool=bestpractice.com这些缺乏通常发生在东南亚人群中,黑种人群很少见。[12]Sakata T, Okamoto A, Mannami T, et al. Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese. J Thromb Haemost. 2004;2:528-530.http://www.ncbi.nlm.nih.gov/pubmed/15009480?tool=bestpractice.com[13]Sakata T, Okamoto A, Mannami T, et al. Prevalence of protein S deficiency in the Japanese general population: the Suita study. J Thromb Haemost. 2004;2:1012-1013.http://www.ncbi.nlm.nih.gov/pubmed/15140145?tool=bestpractice.com[14]Shen MC, Lin JS, Tsay W. High prevalence of antithrombin III, protein C and protein S deficiency, but no factor V Leiden mutation in venous thrombophilic Chinese patients in Taiwan. Thromb Res. 1997;87:377-385.http://www.ncbi.nlm.nih.gov/pubmed/9271815?tool=bestpractice.com凝血因子 VIII 水平升高是黑人中最常见的异常现象;多达 35% 的静脉血栓栓塞患者会出现此情况。[15]Patel RK, Ford E, Thumpston J, et al. Risk factors for venous thrombosis in the black population. Thromb Haemost. 2003;90:835-838.http://www.ncbi.nlm.nih.gov/pubmed/14597978?tool=bestpractice.com