Clinical Impact of Inherited Thrombophilia in Patients With Thrombosis: Evaluating the Real Risk of FVL, PTG20210A, and MTHFR Mutations in the Kurdistan Region of Iraq

BackgroundInherited thrombophilia, particularly Factor V Leiden (FVL) mutation, globally, stands as a known contributing factor for venous thromboembolism (VTE). However, there are minimal case-control studies about the genetic composition and risk of these mutations within the Kurdistan Region of Iraq (KRI). This study's goal was to analyze the frequency and clinical significance of FVL, Prothrombin G20210A, and MTHFR C677T mutations in patients from Sulaymaniyah province.MethodsWithin this prospective case-control study, we analyzed 147 unselected patients (aged 18-49) with documented VTE (DVT, PE, or PVT) and 100 age and sex matched healthy controls. Molecular analysis was performed using multiplex PCR and reverse hybridization.ResultsIn the patient cohort, 55.8% had at least one prothrombotic mutation. The frequency of FVL was 14.3% in the patient cohort compared to 8% in the control group. FVL carriers showed a remarkably higher rate of recurrent thrombosis compared to non-carriers (71% vs. 40%; p = 0.041). Furthermore, FVL carriers had a five-fold increased risk for recurrent DVT (OR 5.4, 95% CI 0.778-37.505) and were significantly more likely to have a positive family history (p = 0.005). While MTHFR C677T was highly prevalent in both groups (48% patients, 49% controls), it was not identified to be an independent risk factor for VTE.ConclusionFVL is classified as a strong contributing factor for recurrent thrombosis in Sulaymaniyah. The high regional prevalence of FVL shows the need for targeted genetic screening in young patients, presenting with unprovoked or recurrent DVT, particularly when a family history is present.