Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report / 医学前沿

Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in SERPINC1 and PROC lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of PROC and SERPINC1 were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in SERPINC1 and a short deletion variant c.572_574delAGA in PROC. This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the SERPINC1 and PROC gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.

Decreased protein C activity-dependent clotting time normalized ratio in patients with acute cerebral infarction / 临床检验杂志

Objective To observe the correlation between protein C activity-dependent clotting time-normalized ratio (PCAT-NR) and the related blood coagulation parameters,e.g.,fibrinogen (Fib),factor Ⅶ coagulant activity (Ⅶ:C),factor Ⅷcoagulant activity (F Ⅷ:C),antithrombin (AT),D-dimer (DD) in patients with acute cerebral infarction.Methods One hundred cases of patients who were diagnosed as acute cerebral infarction according to clinical manifestations and imaging examinations were taken as the test group and 75 healthy subjects were taken as control group.The values of Fib,FⅦ:C,FⅧ:C,AT,PCAT-NR,DD were tested and the difference between the two groups were compared.The differences of Fib,FⅦ:C,FⅧ:C,DD and AT between declined PCAT-NR group and normal PCAT-NR group in the patients with acute cerebral infarction were analyzed.The correlations of PCAT-NR with other coagulation parameters in acute cerebral infarction cases were compared.Results The values of Fib (3.38 ± 1.25) g/L,F Ⅶ:C (130.5 ± 15.9) ％,FⅧ:C (135.8 ± 43.1) ％ and DD (2.12:±:3.01) mg/L in the acute cerebral infarction group were significantly higher than those of control group,while the values of AT (83.94 ± 14.95) ％ and PCAT-NR (0.87 ± 0.23) in test group were significantly lower than those the control group (P＜0.05).The values of Fib (4.03 ± 1.25)g/L,FⅦ:C (138.2 ±6.9)％ and FⅧ:C (151.5 ± 54.9)％ of PCAT-NR declined group in the patients with acute cerebral infarction were significantly higher than those of PCAT-NR normal group (P ＜ 0.05),while the values of DD,AT were not statistically different between two groups (P ＞ 0.05).The values of PCAT-NR were significantly negatively correlated with Fib,FⅧ:C and DD in the patients with acute cerebral infarction (r =-0.484,-0.356 and-0.473,respectively (all P ＜ 0.05).There was no correlation of PCAT-NR with FⅦ:C and AT (P ＞ 0.05).Conclusion The PCAT-NR decline was associated with high coagulation state in patients with acute cerebral infarction.This decline has some correlation with high level of blood clotting factor Ⅷ and Fib.