Tripodi A, Mannucci P M
Centro Emofilia e Trombosi Angelo Bianchi Bonomi, Università degli Studi ed Ospedale Maggiore, Milano.
Ric Clin Lab. 1989 Jan-Mar;19(1):67-74. doi: 10.1007/BF02871794.
A collaborative survey was conducted among Italian thrombosis centers to gather information about the number and clinical features of patients with inherited thrombotic syndromes. The survey, based on 74 unrelated kindreds, revealed that antithrombin III, protein C and protein S defects are the most frequent genetic disorders. Venous thromboembolism was more frequent than arterial thrombosis, which was seen in only a minority of cases, most frequently with dysfibrinogenemia. About half of the patients developed venous thrombosis with a similar incidence in antithrombin III, protein S and protein C defects. About half of the symptomatic patients had recurrences and 40% developed thrombosis after a triggering factor, most frequently after surgery, during the puerperium, pregnancy, oral contraceptive intake or bed rest. Deep venous thrombosis prevailed and superficial thrombophlebitis was rare in antithrombin III-deficient patients, whereas deep venous thrombosis was present in about half and superficial thrombophlebitis in about one third of the cases with protein S and protein C defects. The probability to be free of thrombosis decreases with increasing age and at 35 years can be estimated to be 47% both for men and women. There is, however, a group of patients who are still free of thrombosis despite their older ages.
在意大利血栓形成中心开展了一项合作调查，以收集有关遗传性血栓形成综合征患者数量及临床特征的信息。该调查基于74个无亲缘关系的家族，结果显示抗凝血酶III、蛋白C和蛋白S缺陷是最常见的遗传疾病。静脉血栓栓塞比动脉血栓形成更常见，动脉血栓形成仅在少数病例中出现，最常见于异常纤维蛋白原血症。约一半的患者发生静脉血栓形成，抗凝血酶III、蛋白S和蛋白C缺陷患者的发病率相似。约一半的有症状患者出现复发，40%的患者在触发因素后发生血栓形成，最常见于手术后、产褥期、妊娠期、口服避孕药期间或卧床休息时。在抗凝血酶III缺乏的患者中，深静脉血栓形成占主导，浅静脉血栓形成罕见，而在蛋白S和蛋白C缺陷的病例中，约一半有深静脉血栓形成，约三分之一有浅静脉血栓形成。无血栓形成的概率随年龄增长而降低，35岁时男性和女性的无血栓形成概率估计均为47%。然而，有一组患者尽管年龄较大但仍未发生血栓形成。
