Trombophylia Prevalence in 444 Patients with Clinical Suspicion of Thrombosis.

Objetives: to evaluate the prevalence of genetic polymorphism of coagulation factors: Leyden factor V (FVL), prothrombin mutation, deficiency of coagulation inhibitors, protein C, protein S and antithrombin (AT), test for the lupus anticoagulant/anticardiolipin and homocistein levels, during the laboratory investigation of patients with clinical suspicion of thrombosis.

Patients and methods: This was done as a retrospective chart review study on 444 patients admitted at our hospital between November 2003 and December 2004 ( males 188, females 256). Medium age was 46 years. Prothrombin mutation and Factor V Leyden were searched by multiplex PCR, Protein C, S and lupus anticoagulant were studied by coagulometric methods, AT by chromogenic method, anticardiolipin by immunoenzymatic assay and homocistein by immunometric assay. Statistical analysis was performed using exact Fischer test or × Pearson test.

Results and conclusions: Prevalence of FVL was 32 cases, 7.2 %, 2 homozygotes and 30 heterozygotes. Prothrombyn mutation was found in 25 cases, 5.6 %, 1 homozygote and 24 heterozygotes. On 57 cases with genetic alteration 46 (80%) had thrombosis, 39 venous and 7 arterial. On 183 cases that done anticardiolipin test 27 cases were positive, 14.7 % (18 IgG, 6 IgM and 3 IgA). On those cases 22, 81.4 % had thrombosis, 15 venous and 7 arterial. All 3 cases with lupus anticoagulant had thrombosis. Hyperhomocistein was found in 7 cases, 3.2 %, with 4 cases associated with venous thrombosis and 1 with arterial thrombosis. Deficiencies of Protein C, Protein S and AT were found in 117 cases, l2.8 %, associated with 63 cases of thrombosis, 52 venous and 11 arterial, 56.3 %. Pathogenesis of thrombosis is complex and clearly associated with genetic and environmental factors - risk factors. On populations at risk for thrombosis laboratory investigation is essential.