The Investigation of the Relationship Between the Inherited Thrombophilia and Novel Coronavirus Pneumonia

Abstract

Purpose: Novel coronavirus pneumonia (NCP) is a disease caused by severe acute respiratory syndrome coronavirus 2 virus. It was reported that there is a relationship between severe NCP and hypercoagulable conditions that predispose patients to thrombosis. Thrombophilia is a multifactor condition that can result from genetic factors, acquired factors, or a combination of both. The prothrombin gene (F2 rs1799963 known as G20210A), Factor V Leiden (F5 rs6025 known as G1691A) and PAI-1 (rs1799768) are important polymorphic biomarkers of thrombophilia that are investigated in severe NCP patients within this study.Methods: NCP-diagnosed 62 previously healthy male patients (mean age 38.83±11.04) without any chronic disease were enrolled in this study for the investigation of the well-known thrombophilia-related abovementioned polymorphisms. The diagnosis of NCP was made according to the World Health Organization interim guidance and confirmed by RNA detection. SNPs were detected by real-time PCR. The frequency of genotypes was compared with healthy control group frequencies from other studies performed in the Turkish population.Results: There were no statistically significant differences between the severe patient group and the healthy population regarding the investigated SNPs.Conclusion: This study is the first to rule out the relationship of rs1799963 (FII), rs6025 (FV) and rs1799768 (PAI-1) with severe NCP. As there is an obvious relation between severe NCP and genetic thrombophilia susceptibility, studies focused on other thrombophilia-related genetic factors and this disease must be performed.

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia

“…Many studies have found associations between hereditary thrombophilia factors (FVL, PAI‐1, etc.) and thromboembolic disease, which is common in severe novel coronavirus pneumonia (NCP; COVID‐19) and often associated with death, 13,31 while other have not 15 . In a study of autopsy patients, investigators found no association with inherited thrombophilia factors (FII and FVL) in patients with thromboembolism 12 …”

“…It is important to monitor the prognosis in patients with COVID‐19 and to identify patients at high risk of thrombosis in the post‐COVID period. Although there are studies in the literature trying to reveal the relationship between COVID‐19 hereditary thrombophilia factors, 12–16 there is no study examining the relationship between hereditary thrombophilia and COVID‐19 in patients with high thrombosis risk. Demonstrating this relationship may facilitate the follow‐up of COVID‐19 patients in terms of clinical progression and enable appropriate treatment to be initiated in the early period.…”

Patients with severe coronavirus disease 2019 have high frequency of factor 5 Leiden and prothrombin gene mutations

“…Despite this, there is no study in the literature investigating the effect of hereditary thrombophilia on the course of COVID-19, except for a few studies with limited series of patients. In the bibliographic analysis obtained from PubMed (January 2022) regarding genetic thrombophilia and clinical outcomes in COVID-19 disease, one case report and two studies with smaller patient samples were seen [9][10][11].…”

“…Therefore, it can be hypothesized that FVL and PTGM mutations deteriorate the clinical outcome, especially with thrombotic complications, of the patients with COVID-19. Upon examining studies investigating the relation between genetic thrombophilia and clinical outcomes in COVID-19, especially with its thrombotic complications, few examples were found in the literature (one case report and two studies with smaller patient samples) [9][10][11].…”