Brenner B, Vulfsons S L, Lanir N, Nahir M
Department of Internal Medicine D, Rambam Medical Centre, Haifa, Israel.
Br J Haematol. 1996 Jul;94(1):166-7. doi: 10.1046/j.1365-2141.1996.d01-1757.x.
Two young siblings who presented with an unusual recurrent severe thromboembolic phenomenon were found to have familial anti-phospholipid syndrome and were heterozygous for the factor V R506Q mutation. The coexistence of hereditary and acquired APC-resistance may explain the severity of thromboembolism.
两名出现异常复发性严重血栓栓塞现象的年轻兄妹被发现患有家族性抗磷脂综合征,并且是因子V R506Q突变的杂合子。遗传性和获得性活化蛋白C抵抗的共存可能解释了血栓栓塞的严重性。