Genetic predisposition to vaccine-induced immune thrombotic thrombocytopenia: is there a family link?

Rita Pombal, Luciana Silva, David Ferreira
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Abstract

Background: Vaccine-induced immune thrombotic thrombocytopenia (VITT) is a rare life-threatening thrombotic reaction to COVID-19 vaccines. Case description: Two young male first cousins, with a family history of idiopathic thrombocytopenic purpura, developed VITT after the Ad26.COV2.S vaccine. Both had a favourable clinical and analytical outcome. We investigated the genetic factors that could be associated with a genetic predisposition to VITT. Conclusions: There are no published cases where the VITT patients were relatives. The genetic study did not reveal any likely pathogenic variants, although the prevalent polymorphism c.497A>G (p.(His166Arg)) in the FCGR2A gene was found in a homozygous state. More studies are required to better understand VITT’s pathophysiology and any underlying genetic predispositions.
疫苗诱发免疫性血栓性血小板减少症的遗传倾向:是否存在家族联系?
背景:疫苗诱导的免疫性血栓性血小板减少症(VITT)是一种罕见的危及生命的血栓反应,与 COVID-19 疫苗有关。病例描述两个年轻的男性堂兄弟,有特发性血小板减少性紫癜家族史,在接种 Ad26.COV2.S 疫苗后出现了 VITT。两人的临床和分析结果均良好。我们研究了可能与 VITT 遗传易感性相关的遗传因素。我们得出了结论:目前还没有公开发表过 VITT 患者为亲属的病例。虽然在 FCGR2A 基因中发现了同源多态性 c.497A>G(p.(His166Arg)),但基因研究并未发现任何可能的致病变异。要更好地了解 VITT 的病理生理学和任何潜在的遗传倾向,还需要进行更多的研究。
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