Abstract Number: PB0711
Meeting: ISTH 2020 Congress
Background: Dysfibrinogenemia is a rare qualitative fibrinogen disorder, characterized by a discrepancy between the activity and the antigenic levels of fibrinogen, that can lead to a wide spectrum of clinical manifestations, including asymptomatic, hemorrhage and thrombosis. Congenital dysfibrinogenemia (CD) mostly viewed as an autosomal dominant disease and caused by heterozygous missense mutations in one of the three FG. Diagnosis of dysfibrinogenemia can be misleading, since patients can be asymptomatic and present with bleeding or thrombosis. And there is no specific coagulation test available up to now, which posing a clinical challenge.
Aims: Describe a recurrent thrombosis in children with CD that has not be described in the literature.
Methods: Whole exome sequencing showed a missense mutation in exon 5 of FGA gene at the position 1372C →T, causing the Arg→Cys substitution at the α,chain, which came from his mother whereas there was a hybrid variation of this site of his mother. This mutation has been reported associated with VTE in the Human Gene Mutation Database and is predicted to be a deleterious mutation by SIFT software.
Results: Our patient, an 11-year-old boy with a history of CD with PE ，right ventricle embolus, presented with acute abdominal pain and was subsequently diagnosed with superior mesenteric artery embolus. He was treated with enterectomy，subcutaneous Nadroparin during perioperative period and then transitioned lifelong anticoagulation with warfarin therapy. The general condition of the boy after surgery was good , radiological progress was good and he has experienced no more thrombotic problems since.
Conclusions: The heterozygous missense mutation of FGA c.1372C>G in patients with CD is associated with spontaneous thrombotic events at young age with normal fibrinogen level and prothrombin time. A familial screening and additional functional assays should be carried out if possible. A lifelong anticoagulation therapy may beneficial.
To cite this abstract in AMA style:Yixuan H, Runhui W, Rui Z, Jiafeng Y. A Case Report of Spontaneous and Recurrent Arterial and Venous Thrombotic Events in a Child with FGA c.1372C>T Mutation [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/a-case-report-of-spontaneous-and-recurrent-arterial-and-venous-thrombotic-events-in-a-child-with-fga-c-1372ct-mutation/. Accessed February 21, 2024.
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