{"title":"“无终点检测”:一个独特的凝血分析揭示异常纤维蛋白原血症。","authors":"Kelsey Uminski, Xiu Yan Jiang","doi":"10.1155/crh/8186265","DOIUrl":null,"url":null,"abstract":"<p><p>Dysfibrinogenemia is a rare qualitative fibrinogen disorder that can present with bleeding, thrombosis, or both. We report a case of a young woman with first-trimester pregnancy loss and severe hemorrhage, whose coagulation tests reported \"no end point detected\" on PT, PTT, and Clauss fibrinogen assays. This pattern should prompt consideration of profound hypofibrinogenemia or qualitative fibrinogen defects. Fibrinogen replacement normalized PT and PTT and yielded measurable fibrinogen levels, enabling definitive diagnosis. Discordant activity and antigen levels, along with a pathogenic <i>FGB</i> variant, confirmed dysfibrinogenemia. This case underscores the importance of considering fibrinogen disorders in uninterpretable coagulation profiles and initiating early replacement.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"8186265"},"PeriodicalIF":0.7000,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12316508/pdf/","citationCount":"0","resultStr":"{\"title\":\"\\\"No End Point Detected\\\": A Unique Coagulation Profile Unmasking Dysfibrinogenemia.\",\"authors\":\"Kelsey Uminski, Xiu Yan Jiang\",\"doi\":\"10.1155/crh/8186265\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Dysfibrinogenemia is a rare qualitative fibrinogen disorder that can present with bleeding, thrombosis, or both. We report a case of a young woman with first-trimester pregnancy loss and severe hemorrhage, whose coagulation tests reported \\\"no end point detected\\\" on PT, PTT, and Clauss fibrinogen assays. This pattern should prompt consideration of profound hypofibrinogenemia or qualitative fibrinogen defects. Fibrinogen replacement normalized PT and PTT and yielded measurable fibrinogen levels, enabling definitive diagnosis. Discordant activity and antigen levels, along with a pathogenic <i>FGB</i> variant, confirmed dysfibrinogenemia. This case underscores the importance of considering fibrinogen disorders in uninterpretable coagulation profiles and initiating early replacement.</p>\",\"PeriodicalId\":46307,\"journal\":{\"name\":\"Case Reports in Hematology\",\"volume\":\"2025 \",\"pages\":\"8186265\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-07-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12316508/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/crh/8186265\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/crh/8186265","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
"No End Point Detected": A Unique Coagulation Profile Unmasking Dysfibrinogenemia.
Dysfibrinogenemia is a rare qualitative fibrinogen disorder that can present with bleeding, thrombosis, or both. We report a case of a young woman with first-trimester pregnancy loss and severe hemorrhage, whose coagulation tests reported "no end point detected" on PT, PTT, and Clauss fibrinogen assays. This pattern should prompt consideration of profound hypofibrinogenemia or qualitative fibrinogen defects. Fibrinogen replacement normalized PT and PTT and yielded measurable fibrinogen levels, enabling definitive diagnosis. Discordant activity and antigen levels, along with a pathogenic FGB variant, confirmed dysfibrinogenemia. This case underscores the importance of considering fibrinogen disorders in uninterpretable coagulation profiles and initiating early replacement.