Thrombophilia genetic mutations and their relation to disease severity among patients with COVID-19.

OBJECTIVES: Patients with COVID-19 infection appear to develop virus-induced hypercoagulability resulting in numerous thrombotic events. The aim of the present study was to determine the relationship between the thrombophilia genes mutations (prothrombin G20210A, factor V Leiden, and methyltetrahydrofolate reductase (MTHFR)) and the severity of COVID-19 patients. DESIGN: Prospective cross-sectional study. METHOD: One hundred and forty patients (80 adults and 60 children) were included in the current study. They were divided into the severe COVID-19 group and the mild COVID-19 group, with each group comprising 40 adults and 30 children. The patients were assessed for FV R506Q, FV R2H1299R, MTHFR A1298C, MTHFR C677T, and prothrombin gene G20210A polymorphisms. CBC, D-dimer, renal and liver function tests, hs-CRP, ferritin, and LDH were also assessed. Thrombotic events were clinically and radiologically documented. RESULTS: Severe COVID-19 cases were significantly more frequent to have a heterozygous mutation for all the studied genes compared to mild COVID-19 cases (p<0.05 for all). Being mutant to gene FV R506Q carried the highest risk of developing a severe disease course (p<0.0001). Patients with abnormally high D-dimer levels were significantly more frequent to be heterozygous for FV R506Q, FV R2H1299R, and prothrombin gene G20210A (p = 0.006, 0.007, and 0.02, respectively). CONCLUSION: We concluded that there is an evident relationship between severe COVID-19 and inherited thrombophilia. In the current study, FV R506Q gene mutation carried the highest risk of developing a severe COVID-19 disease course.

Detection of hepatitis C virus (HCV) RNA in the peripheral blood mononuclear cells of HCV-infected patients following sustained virologic response.

It is unclear whether direct-acting antiviral drugs (DAAs) result in the complete eradication of HCV infection or whether some quantities of the virus may persist after achieving a sustained virologic response (SVR). Aim The aim of this work was to study the possibility of the persistence of HCV RNA in peripheral blood mononuclear cells (PBMCs) after achieving SVR following DAA treatment. This study included 100 patients infected with HCV genotype 4, who were candidates for receiving DAAs and who achieved SVR during follow-up, as determined at 12 and/or 24 weeks following the end of treatment. All patients were subjected to demographic, biochemical and hematological assessments. Detection of HCV RNA in the serum and PBMCs and determination of the HCV genotype were performed with real-time PCR. We detected HCV RNA in the PBMCs of 20 out of 100 (20%) patients infected with HCV genotype 4, who achieved SVR. However, the persistent viral load in the PBMCs was very low (range: 400-900 U/mL; mean ± SD: 645.45 ± 153 U/mL). Multiple logistic regression analysis showed that only the higher posttreatment levels of aspartate transaminase (AST) were significantly predictive of HCV RNA persistence in the PBMCs (OR: 1.29; 95% CI: 1.08-1.55). Additionally, according to the Cox proportional hazard model, liver cirrhosis was the only significant risk factor for the persistence of HCV infection in PBMCs (HR: 5.8; 95% CI: 1.3-26.1; P < 0.02). Our results indicated the persistence of HCV RNA in some HCV patients who achieved SVR after treatment with DAAs.

Gastric antral vascular ectasia in hepatitis C virus related liver cirrhosis: Fetching for predictors.

BACKGROUND AND AIM: Gastric antral vascular ectasia (GAVE) is observed in patients with liver cirrhosis and portal hypertension. The exact pathophysiologic mechanism that underlies this condition is unknown. In our study, we estimate the prevalence of GAVE in hepatitis C virus (HCV) cirrhosis and attempted to determine if any of the hepatocellular manifestations, liver functions, serum gastrin, abdominal ultrasound and endoscopic picture have a relation to, or could predict, the occurrence of GAVE in cirrhotic patients. METHODS: This study includes 500 HCV-related liver cirrhosis patients. According to endoscopic assessment, we detected 30 patients with GAVE (Group 2). From the 470 patients without GAVE, we randomly selected 120 patients (Group 1), to avoid statistical bias, for comparison with Group 2. Comparison included clinical manifestations, laboratory findings, serum gastrin, ultrasound findings, and endoscopic findings (esophageal and/or gastric varices and gastropathy). RESULTS: The percentage of GAVE in HCV-related liver cirrhosis is 0.06%. We can predict GAVE by platelets, palmer erythema, diabetes mellitus (DM), marked ascites > with area under the curve of 0.67, 75.5, 0.62, and 0.40%, and accuracy of 82.5, 72, 70.7, and 79.3%, respectively. There was no correlation found between occurrence of GAVE and endoscopic findings. Also, there was no correlation found between occurrence of GAVE and serum gastrin levels, which reflect another pathophysiology, and we found no statistically significant correlation with GAVE. CONCLUSIONS: Palmer erythema, low platelets, DM, and ascites might help in the prediction of GAVE. GAVE is not linked to the presence, type or grade of varices, and gastropathy.