Vaccines against SARS-CoV-2 play a central role in reducing the circulation of the virus and effectively preventing the onset of se vere COVID-19 disease and deaths. Rare side effects after COV ID-19 immunization have been reported such as unusual throm botic events in combination with thrombocytopenia (VITT), or Cerebral Venous Sinus Thrombosis (CVST). We performed Whole Exome Sequencing (WES) analysis in two patients with post-vac cine CVST to identify potential rare variants in genes that might predispose to severe adverse reactions to COVID-19 immuniza tion. We selected two rare variants in genes already correlated to coagulation: the p.Val30Glu, also called “antithrombin Dublin”, in SERPINC1 gene and the variant p. (Gly121Val) in HABP2 gene. These variants might play a crucial role in the thrombotic events of these patients and could infer constitutional susceptibility to thrombosis. These results are useful for thinking about including these genes in the thrombophilic panel used to examine patients before undertaking potential thrombotic treatments.
Rare Thrombophilic Variants in two Patients with Cerebral Venous Sinus Thrombosis after COVID-19 Vaccine Administration
Carla LintasVisualization
;Giuseppe AvvisatiResources
;Fiorella GurrieriConceptualization
2022-01-01
Abstract
Vaccines against SARS-CoV-2 play a central role in reducing the circulation of the virus and effectively preventing the onset of se vere COVID-19 disease and deaths. Rare side effects after COV ID-19 immunization have been reported such as unusual throm botic events in combination with thrombocytopenia (VITT), or Cerebral Venous Sinus Thrombosis (CVST). We performed Whole Exome Sequencing (WES) analysis in two patients with post-vac cine CVST to identify potential rare variants in genes that might predispose to severe adverse reactions to COVID-19 immuniza tion. We selected two rare variants in genes already correlated to coagulation: the p.Val30Glu, also called “antithrombin Dublin”, in SERPINC1 gene and the variant p. (Gly121Val) in HABP2 gene. These variants might play a crucial role in the thrombotic events of these patients and could infer constitutional susceptibility to thrombosis. These results are useful for thinking about including these genes in the thrombophilic panel used to examine patients before undertaking potential thrombotic treatments.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.