Liu H W, Kwong Y L, Bourke C, Lam C K, Lie A K, Wei D, Chan L C
Department of Pathology, Queen Mary Hospital, University of Hong Kong.
Thromb Haemost. 1994 Apr;71(4):416-9.
Venous thromboembolism is rare in Chinese. To determine the incidence and disease profile of thrombophilia in Chinese patients with thrombosis, 52 unselected Chinese patients with documented venous thrombosis were studied for the presence of thrombophilia. Levels of antithrombin III (AT III), protein C (PC) and protein S (PS) as well as the presence of acquired lupus anticoagulant (LA) and anticardiolipin antibody (ACA) were investigated. Thirty patients were found to be abnormal. These consisted of 5 AT III deficiencies, 9 PC deficiencies, 10 PS deficiencies, 1 combined PC & PS deficiency (all in the heterozygous range), and 5 patients with LA and/or ACA. When the patients with LA and/or ACA are excluded, the incidence of hereditary thrombophilia is 25/47 i.e. 53.2% which is much higher than those reported in studies of Caucasian patients selected under strict criteria. Family studies performed in 16 cases of hereditary thrombophilia revealed involvement in 11 cases (68.7%); a total of 36 heterozygous family members were affected, most of which remain asymptomatic. Although 35 events predisposing to thrombosis (27 pregnancies, 1 oral contraceptive consumption and 7 surgical operations) were identified among these index patients, and the heterozygous family members, thrombosis was observed on only 6 occasions (17.1%). The data suggest that pregnancy and surgery do not carry the same degree of thrombotic risk in Chinese as in the Caucasian population with heterozygous AT III, PC and PS deficiency.
静脉血栓栓塞症在中国较为罕见。为确定中国血栓形成患者中遗传性易栓症的发病率和疾病特征,对52例未经挑选且有静脉血栓形成记录的中国患者进行了遗传性易栓症检查。研究了抗凝血酶III(AT III)、蛋白C(PC)和蛋白S(PS)的水平,以及是否存在获得性狼疮抗凝物(LA)和抗心磷脂抗体(ACA)。发现30例患者存在异常。其中包括5例AT III缺乏症、9例PC缺乏症、10例PS缺乏症、1例PC和PS联合缺乏症(均在杂合子范围内),以及5例伴有LA和/或ACA的患者。排除伴有LA和/或ACA的患者后,遗传性易栓症的发病率为25/47,即53.2%,远高于对严格标准下挑选的白种人患者进行研究所报告的发病率。对16例遗传性易栓症患者进行的家族研究显示,11例(68.7%)家族成员受累;共有36名杂合子家族成员受影响,其中大多数仍无症状。尽管在这些索引患者及其杂合子家族成员中发现了35个易导致血栓形成的事件(27次妊娠、1次口服避孕药服用和七次外科手术),但仅6次(17.1%)观察到血栓形成。数据表明,在中国,妊娠和手术所带来的血栓形成风险程度与伴有杂合子AT III、PC和PS缺乏症的白种人群体不同。