Engesser L, Broekmans A W, Briët E, Brommer E J, Bertina R M
Ann Intern Med. 1987 May;106(5):677-82. doi: 10.7326/0003-4819-106-5-677.
To analyze the clinical manifestations of protein S deficiency, we evaluated 136 members of 12 families with the disorder. Seventy-one persons were found to be heterozygous for protein S deficiency, which is inherited as an autosomal dominant trait. Venous thrombotic events occurred in 39 patients (55%) and were recurrent in 77%. Most symptomatic patients had various combinations of deep venous thrombosis (74%), superficial thrombophlebitis (72%), and pulmonary embolism (38%), either in succession or simultaneously. On five occasions thrombosis was found at unusual sites, like the axillary, mesenteric, and cerebral veins. The age at the first thrombotic event ranged from 15 to 68 years (mean, 28 years), and at age 35 the probability to be still free of thrombosis was only 32%. Fifty-six percent of the thrombotic events were not preceded by a precipitating condition. In these respects protein S deficiency is similar to protein C deficiency.
为分析蛋白S缺乏症的临床表现，我们评估了12个患有该疾病家庭的136名成员。发现71人是蛋白S缺乏症的杂合子，该疾病以常染色体显性特征遗传。39例患者（55%）发生静脉血栓事件，其中77%为复发性事件。大多数有症状的患者有深静脉血栓形成（74%）、浅静脉血栓形成（72%）和肺栓塞（38%）的各种组合，这些情况可以相继出现或同时出现。有5次血栓形成发生在不常见的部位，如腋静脉、肠系膜静脉和脑静脉。首次血栓事件的年龄范围为15至68岁（平均28岁），35岁时仍无血栓形成的概率仅为32%。56%的血栓事件之前没有诱发因素。在这些方面，蛋白S缺乏症与蛋白C缺乏症相似。
