{"title":"口服抗xa抑制剂在FIX p.(Ala37Thr)前肽变异致华法林过敏的人工机械主动脉瓣中的应用:病例报告及文献复习","authors":"Antonella Tufano, Carmine Fierarossa, Ferdinando Cirillo, Ciro Miele, Filomena Capasso, Cristina Mazzaccara, Lucia Micale, Gennaro Vecchione, Marco Castori, Ignazio Frangipane, Luca Mocerino, Ernesto Cimino, Matteo Di Minno","doi":"10.1055/a-2546-7180","DOIUrl":null,"url":null,"abstract":"<p><p>Bleeding is the most common side effect during treatment with vitamin K antagonists (VKAs). Sometimes, VKA use causes bleeding episodes due to rare variants in the factor IX (FIX) propeptide that modify the affinity of FIX propeptide to the binding of γ-glutamyl carboxylase. We report on a 51-year-old patient who presented with recurrent spontaneous and severe intramuscular and cutaneous bleedings during VKA (warfarin) treatment for the presence of a prosthetic mechanical aortic valve. Laboratory evaluation revealed INR within the therapeutic range with markedly prolonged aPTT and a large reduction of FIX levels. Laboratory parameters significantly improved when warfarin was switched with low-molecular-weight heparin. Next-generation sequencing analysis revealed the variant p.(Ala37Thr) in the F9 gene, which has been previously associated with VKA sensitivity. As an alternative to warfarin, apixaban 5 mg twice daily and aspirin 100 mg daily were started, with no thrombosis or recurrence of hemorrhage and normalization of INR, aPTT, and FIX levels, at 12-month follow-up. We also performed a literature search across PubMed and Scopus, until January 2025. The analysis evidenced five case reports and two case series. The mechanisms of this rare VKA hypersensitivity have also been reviewed. In conclusion, while VKA hypersensitivity is a rare phenomenon, awareness of this complication and the current accessibility to molecular testing make it important to identify patients at risk. The efficacy/safety of direct thrombin or factor Xa inhibitors in patients with a mechanical heart valve and VKA hypersensitivity due to the F9 p.(Ala37Thr) variant deserves more attention and further investigation.</p>","PeriodicalId":21673,"journal":{"name":"Seminars in thrombosis and hemostasis","volume":" ","pages":""},"PeriodicalIF":3.6000,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Use of Oral Anti-Xa Inhibitor in Prosthetic Mechanical Aortic Valve with Warfarin Hypersensitivity Due to the FIX p.(Ala37Thr) Propeptide Variant: Case Report and Literature Review.\",\"authors\":\"Antonella Tufano, Carmine Fierarossa, Ferdinando Cirillo, Ciro Miele, Filomena Capasso, Cristina Mazzaccara, Lucia Micale, Gennaro Vecchione, Marco Castori, Ignazio Frangipane, Luca Mocerino, Ernesto Cimino, Matteo Di Minno\",\"doi\":\"10.1055/a-2546-7180\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Bleeding is the most common side effect during treatment with vitamin K antagonists (VKAs). Sometimes, VKA use causes bleeding episodes due to rare variants in the factor IX (FIX) propeptide that modify the affinity of FIX propeptide to the binding of γ-glutamyl carboxylase. We report on a 51-year-old patient who presented with recurrent spontaneous and severe intramuscular and cutaneous bleedings during VKA (warfarin) treatment for the presence of a prosthetic mechanical aortic valve. Laboratory evaluation revealed INR within the therapeutic range with markedly prolonged aPTT and a large reduction of FIX levels. Laboratory parameters significantly improved when warfarin was switched with low-molecular-weight heparin. Next-generation sequencing analysis revealed the variant p.(Ala37Thr) in the F9 gene, which has been previously associated with VKA sensitivity. As an alternative to warfarin, apixaban 5 mg twice daily and aspirin 100 mg daily were started, with no thrombosis or recurrence of hemorrhage and normalization of INR, aPTT, and FIX levels, at 12-month follow-up. We also performed a literature search across PubMed and Scopus, until January 2025. The analysis evidenced five case reports and two case series. The mechanisms of this rare VKA hypersensitivity have also been reviewed. In conclusion, while VKA hypersensitivity is a rare phenomenon, awareness of this complication and the current accessibility to molecular testing make it important to identify patients at risk. The efficacy/safety of direct thrombin or factor Xa inhibitors in patients with a mechanical heart valve and VKA hypersensitivity due to the F9 p.(Ala37Thr) variant deserves more attention and further investigation.</p>\",\"PeriodicalId\":21673,\"journal\":{\"name\":\"Seminars in thrombosis and hemostasis\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.6000,\"publicationDate\":\"2025-03-25\",\"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/a-2546-7180\",\"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/a-2546-7180","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Use of Oral Anti-Xa Inhibitor in Prosthetic Mechanical Aortic Valve with Warfarin Hypersensitivity Due to the FIX p.(Ala37Thr) Propeptide Variant: Case Report and Literature Review.
Bleeding is the most common side effect during treatment with vitamin K antagonists (VKAs). Sometimes, VKA use causes bleeding episodes due to rare variants in the factor IX (FIX) propeptide that modify the affinity of FIX propeptide to the binding of γ-glutamyl carboxylase. We report on a 51-year-old patient who presented with recurrent spontaneous and severe intramuscular and cutaneous bleedings during VKA (warfarin) treatment for the presence of a prosthetic mechanical aortic valve. Laboratory evaluation revealed INR within the therapeutic range with markedly prolonged aPTT and a large reduction of FIX levels. Laboratory parameters significantly improved when warfarin was switched with low-molecular-weight heparin. Next-generation sequencing analysis revealed the variant p.(Ala37Thr) in the F9 gene, which has been previously associated with VKA sensitivity. As an alternative to warfarin, apixaban 5 mg twice daily and aspirin 100 mg daily were started, with no thrombosis or recurrence of hemorrhage and normalization of INR, aPTT, and FIX levels, at 12-month follow-up. We also performed a literature search across PubMed and Scopus, until January 2025. The analysis evidenced five case reports and two case series. The mechanisms of this rare VKA hypersensitivity have also been reviewed. In conclusion, while VKA hypersensitivity is a rare phenomenon, awareness of this complication and the current accessibility to molecular testing make it important to identify patients at risk. The efficacy/safety of direct thrombin or factor Xa inhibitors in patients with a mechanical heart valve and VKA hypersensitivity due to the F9 p.(Ala37Thr) variant deserves more attention and further investigation.
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.