Schwieder G, Vieregge P, Wiedemann G, Wagner T
Dtsch Med Wochenschr. 1987 Mar 13;112(11):425-8. doi: 10.1055/s-2008-1068069.
Besides its cofactor protein S and antithrombin III, protein C is one of the most important inhibitors of plasma coagulation. In seven members of a family as well as in three further unrelated patients, a congenital protein C deficiency with thromboembolic diseases including a coumarin necrosis was observed in two cases. Deficiency of protein C predisposes to the occurrence of thromboembolism, but the severity of the underlying heterozygotic genetic defect can also vary within the family. Long-term oral anticoagulation with phenprocoumon is the therapy of choice. Genetic counselling should always be carried out.
除了其辅因子蛋白S和抗凝血酶III外，蛋白C是血浆凝血最重要的抑制剂之一。在一个家族的七名成员以及另外三名无亲缘关系的患者中，观察到两例先天性蛋白C缺乏症并伴有血栓栓塞性疾病，包括香豆素坏死。蛋白C缺乏易引发血栓栓塞，但潜在的杂合子基因缺陷的严重程度在家族内也可能有所不同。长期口服苯丙香豆素进行抗凝是首选治疗方法。应始终进行遗传咨询。
