Iguchi Seitaro, Kazama J James, Ito Satoshi, Shimada Hisaki, Nishi Shinichi, Gejyo Fumitake, Higuchi Wataru, Fuse Ichiro
Second Department of Internal Medicine, Niigata University School of Medicine, Niigata, Japan.
Thromb Res. 2002 Mar 15;105(6):513-7. doi: 10.1016/s0049-3848(02)00055-5.
A 44-year-old man was admitted to our hospital because of recurrent thrombosis. Laboratory findings showed that he had antiphospholipid antibody syndrome (APS) associated with systemic lupus erythematosus. Plasminogen activity was reduced (21%), but its antigenic level was rather elevated (16.4 mg/dl). The discrepancy of plasminogen activity and antigen levels was also found in his three daughters. Gene analysis revealed a homozygous missense mutation (Ala601-->Thr) at exon 15 of the plasminogen gene in the patient and a heterozygous mutation in his three daughters, suggesting that the patient has dysplasminogenaemia, which was reported as "plasminogen Tochigi." Although it still remains controversial whether both dysplasminogenaemia and plasminogen deficiency are relevant independent thrombotic risk factors, the combination of this deficiency and APS should be considered as a strong predisposition to thrombosis in this patient.
一名44岁男性因反复血栓形成入住我院。实验室检查结果显示，他患有与系统性红斑狼疮相关的抗磷脂抗体综合征（APS）。纤溶酶原活性降低（21%），但其抗原水平却有所升高（16.4mg/dl）。在他的三个女儿中也发现了纤溶酶原活性和抗原水平的差异。基因分析显示，该患者纤溶酶原基因第15外显子存在纯合错义突变（Ala601→Thr），其三个女儿为杂合突变，提示该患者患有异常纤溶酶原血症，即“枥木纤溶酶原”。尽管异常纤溶酶原血症和纤溶酶原缺乏是否均为独立的相关血栓形成危险因素仍存在争议，但这种缺乏与APS的组合应被视为该患者血栓形成的强烈易患因素。
