title: High prevalence of protein C, protein S, antithrombin deficiency, and Factor V Leiden mutation as a cause of hereditary thrombophilia in patients of venous thromboembolism and cerebrovascular accident.
abstract: OBJECTIVE
  To determine the frequency of Protein C, Protein S (PC & PS), antithrombin deficiency (AT III) and Factor V Leiden mutation (FVL) as a cause of thrombophilia in the patients with venous thromboembolism (VTE) and cerebrovascular accident (CVA).
  
  
  METHODS
  It was an observational study conducted at Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi, Pakistan. All patients referred for thrombophilia screening from July 2009 to June 2012 were screened. Patients with evidence of VTE or CVA were screened for PC & PS, AT III deficiency, and FVL.
  
  
  RESULTS
  Total 404 patients of age between 1-71 years mean 33 ± 14 with male to female ratio of 2.4:1 had evidence of thrombophilia. Two hundred eighteen (54%) patients presented with CVA, 116 (29%) with deep vein thrombosis (DVT), 42 (10.5%) with pulmonary embolism (PE), and 28 (7.5%) with portal or mesenteric vein thrombosis (PV). Protein C & S deficiency was detected in 35/404 (8.7%), ATIII in 9/404 (2%), and FVL in 25/173 patients (14.5%). The findings were suggestive of a significant association of FVL mutation for developing DVT (OR=11.0, 95% C I 4.6-26.3), CVA (OR=5.7, 95% C I 2.1-15.1), and PV (OR=5.4, 95% C I 1.3-21.9). PC & PS deficiency was a significant risk factor for developing PE (OR=3, 95% C I 0.8-11.4).
  
  
  CONCLUSIONS
  FVL mutation and Protein C & S are the leading causes of thrombophilia with strong association of Factor V Leiden mutation as risk for developing DVT.
authors: Dr. Nadir Ali, FCPS, PhD, Consultant Haematologist, Armed Forces Institute of Pathology (AFIP), Rawalpindi, Pakistan.
authors: Nadir
authors: N
authors: Ali
authors: Professor Muhammad Ayyub, FRCPath, PhD (London), Professor of Pathology and Consultant Haematologist, Armed Forces Institute of Pathology (AFIP), Rawalpindi, Pakistan.
authors: Muhammad
authors: M
authors: Ayyub
authors: Professor Saleem Ahmed Khan, FCPS, PhD, Professor of Pathology and Consultant Haematologist, Armed Forces Institute of Pathology (AFIP), Rawalpindi, Pakistan.
authors: Saleem Ahmed
authors: SA
authors: Khan
keywords: Antithrombin III; Factor V Leiden; Protein C; Protein S; Thrombophilia