[A survey of 20 inherited protein C deficiencies in the patients with venous thromboembolism]

Abstract

Objective: To investigate the incidence of inherited protein C deficiency in the patients with venous thromboembolism (VTE).

Methods: From Apr. of 2010 to Apr. of 2011, 106 patients with VTE totally from Renji hospital were surveyed by a series of laboratory tests including clinical biochemistry tests, coagulation factors activities and anticoagulation factors activities. PROC gene mutations were screened by PCR-direct sequencing in the 20 patients with decreased PC activity.

Results: Among the 20 patients with decreased PC activity, the median activity of factor II, V, VII, VIII, IX, X, XI, XII were 97.0%, 199.9%, 105.5%, 254.7%, 106.4%, 150.4%, 123.1%, 89.9%, respectively.6 PROC gene mutations were found in 11 patients. Six patients have the same point mutation (c.565C > T), the other five mutations were c.508G > T, c.524G > A, c.1174G > A, c.1157T > C, c.577-579del. All of the six mutations were heterozygous, while the c.508G > T, c.524G > A and c.1157T > C were novel in the world.

Conclusions: In this study, we found that PC deficiency is the major inherited risk factor of VTE. The most common PROC mutation identified in this study was heterozygous c.565C > T missense mutation., c.508G > T, c.524G > A and c.1157T > C were novel PROC mutation. The activities of factor V and VIII were elevated dramatically among VTE patients, which may be correlated to the disease.