Iannello S, Prestipino M, Volpicelli G, Campione R, Belfiore F
Cattedra di Medicina Interna, Istituto di Clinica Medica I, Università degli Studi di Catania.
Ann Ital Med Int. 1994 Jul-Sep;9(3):153-9.
We report the case of a 22-year-old obese woman with severe protein S deficiency, probably genetic in nature, associated with recurrent venous thrombosis. Protein S deficiency is a rather rare disease: it may be an inherited, either homozygous (purpura fulminans at neonatal age), heterozygous, or acquired disorder. The thrombophilic state may be manifested as deep vein thrombosis or thrombophlebitis of the superficial veins with a high risk of pulmonary embolism in the young, and it is often exacerbated by pregnancy. In our case, the presenting event, bilateral deep venous (iliac-femoral) thrombosis complicated by disseminated intravascular coagulation, had occurred when the patient was 13 years old. We started long-term therapy with oral coagulants, i.e. warfarin even if the latter may cause skin necrosis ("warfarin dermatitis") in some patients with protein S deficiency. The clinician must consider protein S deficiency in cases of recurrent thrombosis, particularly in young patients: the importance of early implementation of long-term preventive therapy should not be underestimated.
我们报告了一例22岁的肥胖女性病例，该患者患有严重的蛋白S缺乏症，可能为遗传性，伴有复发性静脉血栓形成。蛋白S缺乏症是一种相当罕见的疾病：它可能是遗传性的，可为纯合子型（新生儿期暴发性紫癜）、杂合子型，也可能是获得性疾病。血栓形成倾向在年轻人中可能表现为深静脉血栓形成或浅静脉血栓性静脉炎，并伴有较高的肺栓塞风险，且常因妊娠而加重。在我们的病例中，患者13岁时出现首发事件，即双侧深静脉（髂股静脉）血栓形成并伴有弥散性血管内凝血。我们开始使用口服抗凝剂进行长期治疗，即华法林，尽管在一些蛋白S缺乏症患者中，华法林可能会导致皮肤坏死（“华法林性皮炎”）。临床医生在复发性血栓形成的病例中，尤其是年轻患者中，必须考虑蛋白S缺乏症：早期实施长期预防性治疗的重要性不应被低估。
