A preliminary study of inherited thrombophilic risk factors in different clinical manifestations of venous thromboembolism in central Iran

Abstract

Background & objectives:Inherited thrombophilia is known to be an important risk factor for developing venous thromboembolism. Whether such abnormalities may impact the development of deep vein thrombosis (DVT) and pulmonary embolism (PE) differently is not well defined. This preliminary study was undertaken to compare thrombophilic polymorphism in patients with DVT and PE.Methods:A total of 35 DVT, 23 DVT/PE, and 37 PE patients admitted to the Hajar Hospital, Shahrekord, Iran, between October 2009 and February 2011 were included in the study and 306 healthy volunteers matched by age and sex from the same geographical area with no history of venous or arterial diseases were included as control group. Factor V Leiden (FV 1691G/A, rs6025), prothrombin (FII 20210G/A), methylene tetrahydrofulate reductase (MTHFR 677C/T, rs1801133), and PLA2 polymorphisms of platelet glycoprotein IIb/IIIa (GpIIIa 1565T/C, rs5918) were investigated by polymerase chain reaction-restriction fragment length polymorphism.Results:The number of patients with the investigated polymorphisms and homozygous carriers was significantly different among the groups (P<0.05). No significant difference was observed in the presence of FV 1691G/A and FII 20210G/A between any of the patients groups and the control group. GpIIIa 1565T/C and homozygous MTHFR 677C/T polymorphisms were higher in DVT patients compared with the control group (OR=6.65, 95% CI=3.09-14.30 and OR=4.08, 95% CI=1.35-12.38, respectively).Interpretation & conclusions:As none of the investigated polymorphisms were associated with PE, other thrombophilia polymorphisms may have a role in the pathogenesis of PE in these patients and should be investigated. Because of different prognostic risk factors among different types of patients, the treatment approach could be different.

Clinical profile and outcome of isolated pulmonary embolism: a systematic review and meta-analysis

“…After removing duplicates and irrelevant articles, 412 full-text articles were assessed for eligibility. Fifty articles were considered eligible for the final synthesis of evidence in a systematic review and meta-analysis, 3 , 4 , 5 , 6 , 7 , 8 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 representing a total of 435,768 patients with PE, of whom 288,258 presented with isolated PE. Systematic DNA analysis was performed in 13 studies.…”

“…Follow-up durations were also highly variable. Ten studies reported on (all-cause) death, 5 , 6 , 7 , 18 , 32 , 37 , 41 , 42 , 48 , 49 6/11 studies included data on recurrent VTE events (including superficial vein thrombosis), 6 , 7 , 18 , 33 , 41 , 42 , 59 5/11 studies on fatal, major or clinically relevant non-major bleeding, 5 , 6 , 18 , 41 , 42 and 2/11 on arterial thrombotic events, an aggregate of acute MI, stroke or TIA. 6 , 7 Individual and pooled crude relative risks for these endpoints in isolated PE patients compared to DVT-associated PE patients are shown in Supplemental Fig.…”