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Blood Coagulation & Fibrinolysis最新文献

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Challenges in managing severe homozygous protein c deficiency: a case report. 管理严重同型蛋白 c 缺乏症的挑战：一份病例报告。
IF 1.2 4区 医学
Blood Coagulation & Fibrinolysis Pub Date : 2024-11-05 DOI: 10.1097/MBC.0000000000001332
Eman Almatter, Sondus Alsharidah, Mona Bourhama, Maha Bourusly, Mohamad Adel Obaid
{"title":"Challenges in managing severe homozygous protein c deficiency: a case report.","authors":"Eman Almatter, Sondus Alsharidah, Mona Bourhama, Maha Bourusly, Mohamad Adel Obaid","doi":"10.1097/MBC.0000000000001332","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001332","url":null,"abstract":"<p><p>Protein C deficiency is a rare autosomal recessive disorder associated with a high risk of thromboembolic complications. This case report describes the challenges in managing a 23-year-old woman with severe homozygous protein C type 1 deficiency diagnosed since early infancy. Her medical history included misdiagnosed cellulitis, recurrent thrombosis, and permanent vision loss in one eye. The laboratory workup confirmed a diagnosis of severe protein C deficiency. Management involved a combination of fresh frozen plasma (FFP), protein C concentrate, warfarin, and heparin, with ongoing challenges due to recurrent thrombosis and anaphylaxis to FFP. This case highlights the challenges in the diagnosis and management of severe protein C deficiency. Although current treatment options provide partial control, further research is crucial to develop safer and more effective therapies to improve long-term outcomes for affected patients.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142602984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family. 一个印度家庭中出现的临床表现各异的新型 SERPINC1 c.119G>A (p.Cys40Tyr) 突变。
IF 1.2 4区 医学
Blood Coagulation & Fibrinolysis Pub Date : 2024-11-04 DOI: 10.1097/MBC.0000000000001333
Kranti Patil, Asha Shah, Gurpreet Saini, Shreyas Tawde, Shruti Kharat, Fiza Jivani, Aniket Kamble, Shrimati Shetty
{"title":"A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family.","authors":"Kranti Patil, Asha Shah, Gurpreet Saini, Shreyas Tawde, Shruti Kharat, Fiza Jivani, Aniket Kamble, Shrimati Shetty","doi":"10.1097/MBC.0000000000001333","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001333","url":null,"abstract":"<p><p>Hereditary antithrombin (AT) deficiency due to mutations in SERPINC1 is known to be the most severe form of thrombophilia. We report three members in a family with hereditary AT deficiency with a novel mutation in exon 2 of SERPINC1, that is c.119 G>A (p.Cys40Tyr). Two brothers presented with acute pulmonary thromboembolism (PTE) at 18 and 21 years of age, whereas their 58-year-old father did not have any thrombotic episode till date. The in-silico prediction of the variant was found to be highly damaging by PolyPhen-2, SIFT and MutationTaster. Clinical exome sequencing did not show any strong coinherited thrombophilia genes, except SERPINE1 -844 G>A variant in homozygous state in the two affected brothers as compared to the father who was heterozygous for this variant. The additive effect of SERPINE1 variant in the clinical expression in two siblings cannot be ruled out, in the absence of any other known environmental triggering factors.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel γ-chain mutation p.Asp318His in a Chinese family with dysfibrinogenemia. 一个中国纤维蛋白原不良血症家族的新型γ-链突变 p.Asp318His
IF 1.2 4区 医学
Blood Coagulation & Fibrinolysis Pub Date : 2024-10-25 DOI: 10.1097/MBC.0000000000001329
Haiyue Zhang, Weifeng Shen
{"title":"A novel γ-chain mutation p.Asp318His in a Chinese family with dysfibrinogenemia.","authors":"Haiyue Zhang, Weifeng Shen","doi":"10.1097/MBC.0000000000001329","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001329","url":null,"abstract":"<p><strong>Background: </strong>Congenital dysfibrinogenemia is characterized by reduced fibrinogen activity, but normal immunoreactive fibrinogen levels. Here, we present a novel case with an elevated risk of thrombosis.</p><p><strong>Methods: </strong>Coagulation assays, gene analysis, in silico tools, sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE), fibrin polymerization, thrombin generation assay, and electron microscopy scanning were utilized to elucidate the pathogenic mechanism.</p><p><strong>Results: </strong>The proband manifested with a normal immunologic fibrinogen (2.13 g/l) but reduced functional fibrinogen (0.39 g/l). Subsequent genetic analysis unveiled a novel heterozygous mutation, c.1030G>C (p.Asp318His), in the γ-chain D domain of fibrinogen, which was highly conserved in homologous species and led to enhanced thrombin generation capability. The ability of the proband's fibrinogen to polymerize was significantly impaired, with decreased final turbidity. Scanning electron microscopy indicated that the fibers of the proband were thinner than normal, with smaller pores. Thromboelastography (TEG) results demonstrated prolonged K time, decreased angle value, and a normal confidence interval value in the proband.</p><p><strong>Conclusion: </strong>We present a novel case displaying the γAsp318His mutation, which resulted in dysfibrinogenemia.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe acquired Factor VII deficiency complicating an aplastic anemia, successfully treated with corticosteroids. 严重的获得性因子 VII 缺乏症并发再生障碍性贫血，使用皮质类固醇治疗成功。
IF 1.2 4区 医学
Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-09-20 DOI: 10.1097/MBC.0000000000001323
Romain Batton, Chamouni Pierre, Marion Carrette, Sauvêtre Gaëtan, Virginie Barbay
{"title":"Severe acquired Factor VII deficiency complicating an aplastic anemia, successfully treated with corticosteroids.","authors":"Romain Batton, Chamouni Pierre, Marion Carrette, Sauvêtre Gaëtan, Virginie Barbay","doi":"10.1097/MBC.0000000000001323","DOIUrl":"10.1097/MBC.0000000000001323","url":null,"abstract":"<p><p>Factor VII deficiency is a rare hemostatic disorder that can lead to severe clinical outcomes. Due to the scarcity of reported cases, treatment guidelines for this condition remain unclear. In this report, we present a case of acquired factor VII deficiency (aFVII) in an elderly female with medullary aplasia. The initial clinical manifestation was hemarthrosis, accompanied by a rapid increase in prothrombin time. Prompt intervention involved supplementation to address the deficiency. Subsequent laboratory testing failed to detect any specific factor VII inhibitor. Considering the patient's frailty, immunosuppressive therapy comprising only corticosteroids was administered. The potential triggering mechanisms may include recurrent episodes of sepsis or an underlying autoimmune condition. Further research is necessary to better understand the etiology and optimal management of aFVII deficiency.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":"345-348"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142457301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reliability of generative artificial intelligence in identifying the major risk factors for venous thrombosis.
IF 1.2 4区 医学
Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-10-11 DOI: 10.1097/MBC.0000000000001322
Giuseppe Lippi, Camilla Mattiuzzi, Emmanuel J Favaloro
{"title":"Reliability of generative artificial intelligence in identifying the major risk factors for venous thrombosis.","authors":"Giuseppe Lippi, Camilla Mattiuzzi, Emmanuel J Favaloro","doi":"10.1097/MBC.0000000000001322","DOIUrl":"10.1097/MBC.0000000000001322","url":null,"abstract":"","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":"35 7","pages":"354-355"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Protein S contributes to the paradoxical increase in thrombin generation by low-dose dabigatran in the presence of thrombomodulin. 在血栓调节蛋白存在的情况下，低剂量达比加群会增加凝血酶的生成，而蛋白 S 对这一矛盾现象起了作用。
IF 1.2 4区 医学
Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-08-22 DOI: 10.1097/MBC.0000000000001320
Chi Zhang, Weixiang Chen, Yue Zhang, Tingbo Jiang
{"title":"Protein S contributes to the paradoxical increase in thrombin generation by low-dose dabigatran in the presence of thrombomodulin.","authors":"Chi Zhang, Weixiang Chen, Yue Zhang, Tingbo Jiang","doi":"10.1097/MBC.0000000000001320","DOIUrl":"10.1097/MBC.0000000000001320","url":null,"abstract":"<p><p>Low dose of dabigatran paradoxically increased thrombin generation through inhibition of protein C activation. Protein S is a co-factor in the activation of protein C. However, the role of protein S in the enhancement of thrombin generation has not been addressed. Firstly, we measured thrombin generation by calibrated automated thrombinography (CAT) and prothrombin fragments 1+2 (F 1+2 ) assays. Secondly, we assessed activated protein C (APC) formation in normal or protein S-deficient plasma spiking with dabigatran. Then, protein C activation was measured. Finally, heavy chain of factor Va (FVa) and its degradation products were detected by western blot. CAT assay showed that 70-141 ng/ml dabigatran paradoxically increased thrombin generation in normal plasma. However, higher concentrations of dabigatran (283 ng/ml) suppressed the level of ETP. F 1+2 assay showed the similar results. In protein S-deficient or protein C-deficient plasma, the paradoxical increase in thrombin generation was absent. Level of generated APC was to a similar extent inhibited by dabigatran in normal and protein S-deficient plasma. Low-dose dabigatran inhibited the protein S-dependent inactivation of factor Va. Protein S participated in the paradoxical enhancement of thrombin generation in normal plasma spiking with low concentrations of dabigatran. Increased thrombin generation at low dabigatran can be explained by reduced thrombin-thrombomodulin mediated APC formation and subsequent reduced FVa inactivation that is protein S-dependent.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":"334-339"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Improved prevention of bleeding episodes with emicizumab in 3 patients with concomitant hemophilia A and von Willebrand disease. 埃米珠单抗能有效预防 3 名同时患有血友病 A 和冯-威廉氏病的患者的出血发作。
IF 1.2 4区 医学
Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-09-04 DOI: 10.1097/MBC.0000000000001324
Kristin T Ansteatt, Jonathan C Roberts, Jackie M Helms, Michael D Tarantino
{"title":"Improved prevention of bleeding episodes with emicizumab in 3 patients with concomitant hemophilia A and von Willebrand disease.","authors":"Kristin T Ansteatt, Jonathan C Roberts, Jackie M Helms, Michael D Tarantino","doi":"10.1097/MBC.0000000000001324","DOIUrl":"10.1097/MBC.0000000000001324","url":null,"abstract":"<p><p>The typical phenotype of hemophilia A (HA) is that of frequent bleeding episodes, up to several per month, unless prophylactic factor VIII (FVIII) replacement or alternatives are given. Related bleeding may be heightened in severity or frequency by co-morbid bleeding disorders. Based on the reported prevalence of von Willebrand disease (VWD) of up to 1% of the general population, the co-existence of HA and VWD occurs, but is likely less recognized. Prophylactic FVIII replacement may or may not adequately prevent bleeding in persons with HA and mild VWD, and plasma-derived concentrates containing FVIII and von Willebrand factor (VWF) may be used for more successful bleeding prophylaxis. However, therapy adherence remains problematic for many reasons, one being treatment via intravenous access. Emicizumab is a nonfactor subcutaneous prophylactic therapy for HA that may overcome this concern. We describe three patients, with severe HA and VWD, for whom regular FVIII/VWF prophylaxis was deemed inadequate. FVIII/VWF prophylaxis was replaced with weekly prophylactic injections of the bispecific monoclonal antibody, emicizumab. When the patients were transitioned to emicizumab, all experienced a significant reduction in their annualized bleed rate (ABR). Although the mechanism of action does not directly affect or replace VWF function, emicizumab may be an effective prophylaxis alternative to FVIII/VWF concentrate in patients with concomitant severe HA and VWD.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":"340-344"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Venous thromboembolism secondary prophylaxis in elderly people (over 75-year-old) with low-dose direct oral anticoagulants: single-center Italian experience.
IF 1.2 4区 医学
Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-10-11 DOI: 10.1097/MBC.0000000000001321
Alessandro Laganà, Ludovica Fucci, Silvia Sorella, Cristina Santoro, Antonio Chistolini
{"title":"Venous thromboembolism secondary prophylaxis in elderly people (over 75-year-old) with low-dose direct oral anticoagulants: single-center Italian experience.","authors":"Alessandro Laganà, Ludovica Fucci, Silvia Sorella, Cristina Santoro, Antonio Chistolini","doi":"10.1097/MBC.0000000000001321","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001321","url":null,"abstract":"<p><p>Nowadays, direct oral anticoagulants (DOACs) represent the gold standard for venous thromboembolism (VTE) treatment and VTE secondary prophylaxis; nevertheless, the percentage of elderly patients in major trials and literature data about DOACs usage for VTE secondary prophylaxis in the elderly are scant. Our retrospective study tried to evaluate low-dose DOACs efficacy and safety for elderly VTE secondary prophylaxis in a real-life setting. A cohort of 73 patients (≥ 75 years) considered at high risk of VTE recurrence was treated with apixaban 2.5 mg twice daily (b.i.d.) or rivaroxaban 10 mg daily as VTE secondary prophylaxis. The median low-dose DOACs administration time was 18.40 months. Three (4.1%) VTE recurrence events were observed, with four bleeding events registered (5.5%), including one major bleeding (MB) (1.4%) and two clinically relevant non major bleeding (CRNMB) (2.7%). Our data suggest that low-dose DOACs may be effective and well tolerated for secondary VTE prophylaxis in elderly patients at high risk of VTE recurrence.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":"35 7","pages":"349-354"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of factor XIII in patient blood management. XIII 因子在患者血液管理中的作用。
IF 1.2 4区 医学
Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-09-30 DOI: 10.1097/MBC.0000000000001326
Miodrag Žunić, Nino Vreča, Sebastjan Bevc
{"title":"The role of factor XIII in patient blood management.","authors":"Miodrag Žunić, Nino Vreča, Sebastjan Bevc","doi":"10.1097/MBC.0000000000001326","DOIUrl":"10.1097/MBC.0000000000001326","url":null,"abstract":"<p><p>Factor XIII (FXIII), a plasma transglutaminase, is a coagulation factor that plays a crucial role in blood clotting and patient blood management. The studies have demonstrated that FXIII targets a wide range of additional substrates that have an important role in hemostasis, especially in posttraumatic patients, patients undergoing surgery or obstetrics, being involved in wound healing and tissue repair. Morover, FXIII deficiency has also been described and an extensive research has shown that FXIII deficiency is a rare coagulopathy that leads to longer bleeding time, perioperative and postoperative complications and slower wound healing. Present article aims to overview the diverse functions of FXIII and to highlight its role in patient blood management.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":"325-333"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142457302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cancer-associated thrombosis: the role of inherited thrombophilia. 癌症相关血栓形成：遗传性血栓性疾病的作用。
IF 1.2 4区 医学
Blood Coagulation & Fibrinolysis Pub Date : 2024-09-01 Epub Date: 2024-07-26 DOI: 10.1097/MBC.0000000000001317
Anita Zia, Mahmood Shams, Ali Dabbagh, Milad Shahsavari, Akbar Dorgalaleh
{"title":"Cancer-associated thrombosis: the role of inherited thrombophilia.","authors":"Anita Zia, Mahmood Shams, Ali Dabbagh, Milad Shahsavari, Akbar Dorgalaleh","doi":"10.1097/MBC.0000000000001317","DOIUrl":"10.1097/MBC.0000000000001317","url":null,"abstract":"<p><p>Cancer-associated thrombosis (CAT) is a common complication and a major cause of morbidity and mortality in patients with active cancers. CAT is common in various malignancies, particularly pancreatic, ovarian, gastric, colorectal, and hematologic cancers. In fact, CAT is a complicated multifactorial complication that may be influenced by the type of cancer as well as by the genetic background and inheritance of thrombophilic variants and elevated concentrations of coagulation factors. Several studies have shown the prominent role of inherited thrombophilias, such as prothrombin 20210, factor V Leiden, factor XIII Val34Leu, MTHFR C677T, in the occurrence of CAT, while others have found no correlation between them and CAT. In the present review, we have attempted to investigate the possible role of inherited thrombophilia in the occurrence of CAT.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":"297-302"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141854670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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