{"title":"因子 V 缺乏症的临床、实验室和分子方面。","authors":"Massimo Franchini, Daniele Focosi","doi":"10.1055/s-0044-1789021","DOIUrl":null,"url":null,"abstract":"<p><p>Factor V (FV) is a glycoprotein that plays a pivotal role in hemostasis, being involved in coagulant and anticoagulant pathways. Congenital FV deficiency is a rare bleeding disorder with an incidence of 1 per million live births, considering the most severe homozygous form. FV deficiency is diagnosed using routine coagulation tests and FV activity assays. Several mutations, including missense, nonsense, and frameshift, have been detected in the <i>F5</i> gene. Clinical symptoms are variable, ranging from mild ecchymoses and mucosal bleeding to life-threatening intracranial hemorrhage. The mainstay of treatment includes fresh-frozen plasma, preferentially virus-inactivated. In this narrative review, we provide an update of the main laboratory, molecular, clinical, and therapeutic features of inherited FV deficiency.</p>","PeriodicalId":21673,"journal":{"name":"Seminars in thrombosis and hemostasis","volume":null,"pages":null},"PeriodicalIF":3.6000,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical, Laboratory, and Molecular Aspects of Factor V Deficiency.\",\"authors\":\"Massimo Franchini, Daniele Focosi\",\"doi\":\"10.1055/s-0044-1789021\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Factor V (FV) is a glycoprotein that plays a pivotal role in hemostasis, being involved in coagulant and anticoagulant pathways. Congenital FV deficiency is a rare bleeding disorder with an incidence of 1 per million live births, considering the most severe homozygous form. FV deficiency is diagnosed using routine coagulation tests and FV activity assays. Several mutations, including missense, nonsense, and frameshift, have been detected in the <i>F5</i> gene. Clinical symptoms are variable, ranging from mild ecchymoses and mucosal bleeding to life-threatening intracranial hemorrhage. The mainstay of treatment includes fresh-frozen plasma, preferentially virus-inactivated. In this narrative review, we provide an update of the main laboratory, molecular, clinical, and therapeutic features of inherited FV deficiency.</p>\",\"PeriodicalId\":21673,\"journal\":{\"name\":\"Seminars in thrombosis and hemostasis\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.6000,\"publicationDate\":\"2024-08-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Seminars in thrombosis and hemostasis\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0044-1789021\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seminars in thrombosis and hemostasis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/s-0044-1789021","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Clinical, Laboratory, and Molecular Aspects of Factor V Deficiency.
Factor V (FV) is a glycoprotein that plays a pivotal role in hemostasis, being involved in coagulant and anticoagulant pathways. Congenital FV deficiency is a rare bleeding disorder with an incidence of 1 per million live births, considering the most severe homozygous form. FV deficiency is diagnosed using routine coagulation tests and FV activity assays. Several mutations, including missense, nonsense, and frameshift, have been detected in the F5 gene. Clinical symptoms are variable, ranging from mild ecchymoses and mucosal bleeding to life-threatening intracranial hemorrhage. The mainstay of treatment includes fresh-frozen plasma, preferentially virus-inactivated. In this narrative review, we provide an update of the main laboratory, molecular, clinical, and therapeutic features of inherited FV deficiency.
期刊介绍：
Seminars in Thrombosis and Hemostasis is a topic driven review journal that focuses on all issues relating to hemostatic and thrombotic disorders. As one of the premiere review journals in the field, Seminars in Thrombosis and Hemostasis serves as a comprehensive forum for important advances in clinical and laboratory diagnosis and therapeutic interventions. The journal also publishes peer reviewed original research papers.
Seminars offers an informed perspective on today''s pivotal issues, including hemophilia A & B, thrombophilia, gene therapy, venous and arterial thrombosis, von Willebrand disease, vascular disorders and thromboembolic diseases. Attention is also given to the latest developments in pharmaceutical drugs along with treatment and current management techniques. The journal also frequently publishes sponsored supplements to further highlight emerging trends in the field.
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