Effect of Hereditary Thrombophilia on the Clinical Severity of Covid-19 Pneumonia

Abstract Aim: COVID-19 disease continues to pose a significant global challenge. Endothelial damage, imbalance of coagulation and fibrinolysis, vasculopathy, excessive cytokine release, and immunothrombotic mechanisms can be observed in COVID-19 disease. Severe coagulopathy is predominanant in COVID-19 pneumonia. This study aims to evaluate the effect of hereditary thrombophilia on the severity of COVID-19 pneumonia. Materials and Methods: A total of 100 cases previously diagnosed with COVID-19 pneumonia and presented to the COVID-19 follow-up clinic were included in the study. Cases were categorized into outpatient, inpatient, and intensive care unit (ICU) follow-up groups based on clinical severity. Information regarding the period of COVID-19 pneumonia for the included patients was retrospectively obtained from hospital records. One tube of blood sample was collected from each case to assess the presence of hereditary thrombophilia and stored at +4°C. Subsequently, thrombophilia panel including Factor II (FII) 20210 G>A (Prothrombin), Factor V (FV) 1691 G>A (Leiden), MTHFR 677 C>T, MTHFR 1298 A>C, and PAI-1 4G/5G studies were performed. Results: The age of cases ranged from 27 to 84 years with a mean age of 57.04 ± 12.68 years. 37% (n=37) of the cases were male, and 63% (n=63) were female. 65% of cases had comorbidities. In all cases except one, hereditary thrombophilia was observed (Factor V-Leiden heterozygosity 16%, prothrombin heterozygosity 7%, PAI-1 4G/4G mutation 19%, PAI-1 4G/5G mutation 48%, MTHFR 677 heterozygosity 45%, MTHFR 677 homozygosity 6%, MTHFR 1298 heterozygosity 42%, MTHFR 1298 homozygosity 14%). There was no statistically significant difference in the characteristics of hereditary thrombophilia among cases based on clinical severity (p>0.05). However, when the patients were grouped according to outpatient and inpatient (inpatient + ICU) treatment, PAI-1 4G/5G mutation was found to be statistically significantly higher in the inpatient treatment group [X2=12.00, p<0.05]. Conclusion: Almost all cases of COVID-19 pneumonia included in our study were found to have at least one hereditary thrombophilia. Furthermore, a significant difference in PAI-1 4G/5G mutation was observed between outpatient and inpatient (inpatient + ICU) cases. However, the presence of hereditary thrombophilia did not differ among the groups. This may be attributed to the limited number of cases included in the study and its retrospective nature. Nevertheless, demonstrating this association may suggest a potential link between hereditary thrombophilia and COVID-19 pneumonia.