ABSTRACT
Deep vein thrombosis [DVT] is a blood clot in a major vein, usually in the legs and/or pelvis. If part of the thrombus breaks off, it becomes an embolism, which can travel through the heart and block the arteries to the lungs. Factor V Leiden [FVL] is a common genetic risk factor for hereditary hypercoagulability disorder in several populations. The present study investigates the association of FVL mutation with DVT among Egyptian cases. The study included 44 cases [16 males and 28 females] with an age range of 20 to 80 years in addition to 211 healthy unrelated controls of matched age and sex. A multiplex allele-specific PCR amplification was conducted for assignment of FVL gene mutation [G1691 A]. Cases having the mutant allele A [AA and AG genotypes] were significantly higher than controls [38.6% vs. 18.5%; P < 0.05, OR= 2.78 and CI 95%, 1.380-5.589]. These results concluded that FVL mutation has a high frequency and positive association with the occurrence of deep vein thrombosis among Egyptian cases
Subject(s)
Humans , Male , Female , Factor V/blood , Genotype , Polymerase Chain Reaction/methodsABSTRACT
This study was carried out to evaluate pro C Global [PCG] test in clinical routine with special regard to its sensitivity and specificity for factor V [FV] leiden as well as the deficiency of protein C [PC] and protein S [PS]. 70 adult patients with documented diagnosis of deep vein thrombosis [DVT] by Doppler ultrasonography were chosen from those were attending the emergency unit of Alexandria main university hospital and Alexandria armed forces hospital in addition to 30 age and sex matched healthy controls were evaluated for PCG test in relation to gold standard tests i.e. PC activity, PS activity and activated protein C resistance [APCR]. Also determination of lupus anticoagulants [LA] was done for all subjects under study. The sensitivity and specificity of PCG test were [100% and 100%] for FV leiden, [87.5% and 82.3%] for PC and [80% and 78.5%] for PS. The negative predictive value was [100%, 98.1% and 98.1%] for FV leiden, PC and PS respectively. The positive predictive value was [100%, 38.9% and 22.2%] for FV leiden, PC and PS respectively. Also, the diagnostic accuracy was [100%, 82.9% and 78.6%] for FV leiden, PC and PS respectively. The results of LA were negative in all patients and controls. However, the normalized ratio [NR] of PCG test was decreased in [14.8%] of patients group without any detectable defect in PC system and their results were significantly lower than control group [P=0.000]. On the other side, the results were considerably higher than those for the patients with a proven defect in PC system. Pro C Global test is sensitive, specific, less time consuming and can be performed on a routine base. Because of the high negative predictive value, we recommend the use of Pro C Global test in the screening of thrombophilic patients and further determination of F V leiden, PC activity and PS activity is only indicated in case of abnormal Pro C Global results