Seminars in thrombosis and hemostasis最新文献

Welcome to Seminars in Thrombosis and Hemostasis 2025: Toward the Next 50 Years of Publishing and Announcement of New Online Manuscript Submission System. 欢迎参加血栓和止血2025研讨会：迈向下一个50年的出版和新的在线稿件提交系统的公告。

IF 3.6 2区医学

Seminars in thrombosis and hemostasis Pub Date : 2025-02-01 Epub Date: 2024-10-17 DOI: 10.1055/s-0044-1791941

Emmanuel J Favaloro

引用次数: 0

Gene Therapy for Hemophilia B: Achievements, Open Issues, and Perspectives. B 型血友病基因疗法：成就、未决问题和前景。

IF 3.6 2区医学

Seminars in thrombosis and hemostasis Pub Date : 2025-02-01 Epub Date: 2024-05-31 DOI: 10.1055/s-0044-1787190

Giancarlo Castaman, Wolfgang Miesbach

引用次数: 0

Patient Perspective on Disease Burden and Gene Therapy for Hemophilia A and B: The "Haemvolution for Patients" Italian Survey. 患者对 A 型和 B 型血友病的疾病负担和基因疗法的看法："患者的血液革命 "意大利调查。

IF 3.6 2区医学

Seminars in thrombosis and hemostasis Pub Date : 2025-02-01 Epub Date: 2024-06-18 DOI: 10.1055/s-0044-1787664

Maria Francesca Mansueto, Sarah Bigi, Marco Follino, Angelo Lupi, Antonio Coppola

{"title":"Patient Perspective on Disease Burden and Gene Therapy for Hemophilia A and B: The \"Haemvolution for Patients\" Italian Survey.","authors":"Maria Francesca Mansueto, Sarah Bigi, Marco Follino, Angelo Lupi, Antonio Coppola","doi":"10.1055/s-0044-1787664","DOIUrl":"10.1055/s-0044-1787664","url":null,"abstract":"Hemophilia is a rare X-linked congenital bleeding disorder due to a deficiency of factor VIII (hemophilia A [HA]) or factor IX (hemophilia B [HB]). Replacement and nonreplacement treatments are available but have limitations. Gene therapy (GT) provides an effective, long-term, single-dose treatment option, now approaching clinical practice. This study aimed to understand patient perspectives on GT for HA and HB in Italy using a qualitative questionnaire distributed through Italian patient associations, addressing patient views on daily life, treatments, unmet needs, quality of life (QoL), and GT for hemophilia. In total, 141 participants had HA, and 14 had HB (severe 78.6%). Daily life was most affected by pain and/or joint function limitations (57.5% of participants), high infusion frequency (42.5%), management of breakthrough bleeding episodes (40.3%), and anxiety/fear of severe or sudden bleeding (38.8%). Despite current treatments, about half of the participants experienced three or more annual bleeding episodes. Most participants knew of GT (87.2%) and expected improvements in QoL (60.5%), reduced frequency of current treatments (53.5%), and a permanent cure (49.1%); 46.4% were unaware of its once-off dosage and 46.4% were not concerned about the costs they anticipated to be associated with GT. Although several fears were reported, 25.0% of participants were willing to undergo GT with the support of a multidisciplinary team. This survey provided valuable insight into patient perspectives on hemophilia and GT in Italy. Overall, relevant proportions of patients still experience limitations affecting their daily life. Most were positive about GT and anticipated improvements in their clinical outcomes and QoL.","PeriodicalId":21673,"journal":{"name":"Seminars in thrombosis and hemostasis","volume":" ","pages":"49-57"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141420733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Hereditary Hemorrhagic Telangiectasia: On the Brink of a New Treatment Era? 遗传性出血性毛细血管扩张：在一个新的治疗时代的边缘？

IF 3.6 2区医学

Seminars in thrombosis and hemostasis Pub Date : 2025-02-01 Epub Date: 2024-12-18 DOI: 10.1055/s-0044-1800834

Antonio Cerrone, Elisabetta Buscarini, Roberto Berté, Saverio Alicante, Stefania Bertolazzi, Olivia Moreschi, Paola Griffanti, Guido Manfredi

{"title":"Hereditary Hemorrhagic Telangiectasia: On the Brink of a New Treatment Era?","authors":"Antonio Cerrone, Elisabetta Buscarini, Roberto Berté, Saverio Alicante, Stefania Bertolazzi, Olivia Moreschi, Paola Griffanti, Guido Manfredi","doi":"10.1055/s-0044-1800834","DOIUrl":"10.1055/s-0044-1800834","url":null,"abstract":"Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder with highly variable penetrance, affecting up to 1 in 5,000 individuals. It is characterized by the presence of abnormal blood vessels that can lead to excessive bleeding-most frequently recurrent nosebleeds (epistaxis), skin and mucosal telangiectasias (small, dilated blood vessels), as well as arteriovenous malformations (AVMs) that can form in various organs, particularly the lungs, liver, and brain. HHT is caused by loss-of-function mutations in the BMP9-10/ENG/ALK1/SMAD4 signaling pathway, an important mediator of vascular quiescence. HHT possesses significant challenges for affected individuals, as the complications can range from mild to life-threatening events, depending on the severity and location of the vascular abnormalities. Despite this bleeding disorder being not uncommon, nowadays no specific treatment is as yet available for HHT and most current therapies include repurposed drugs. The aim of this review was to show therapeutic advances on the basis of recent promising clinical trials for HHT.","PeriodicalId":21673,"journal":{"name":"Seminars in thrombosis and hemostasis","volume":" ","pages":"91-97"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142855531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Nonsevere Hemophilia: The Need for a Renewed Focus and Improved Outcomes. 非重度血友病：重新关注和改善结果的必要性。

IF 3.6 2区医学

Seminars in thrombosis and hemostasis Pub Date : 2025-02-01 Epub Date: 2024-05-11 DOI: 10.1055/s-0044-1786358

Gerard Dolan, Karin Fijnvandraat, Peter J Lenting, Cristina Catarino, Michelle Lavin

{"title":"Nonsevere Hemophilia: The Need for a Renewed Focus and Improved Outcomes.","authors":"Gerard Dolan, Karin Fijnvandraat, Peter J Lenting, Cristina Catarino, Michelle Lavin","doi":"10.1055/s-0044-1786358","DOIUrl":"10.1055/s-0044-1786358","url":null,"abstract":"People with nonsevere hemophilia (PWNSH) are phenotypically more diverse than those with severe hemophilia. Perceptions relating to a \"nonsevere\" phenotype have contributed to fewer research initiatives, fewer guidelines on optimal management, and a lack of standards for surveillance and clinical assessment for affected individuals. In many cases, episodes of abnormal bleeding could, if investigated, have led to earlier diagnosis. Furthermore, the major recent developments in therapy for hemophilia have largely focused on severe disease and, as a group, PWNSH have not been included in many key clinical trials. Benefiting people with severe disease, innovative replacement therapies have generally targeted factor levels that are above those present in a large proportion of PWNSH. Therapeutic advances can lead to improvement in phenotype for people with severe hemophilia over that currently experienced by many PWNSH. As a result, we are approaching a point where PWNSH may, in many countries, have a higher risk of bleeding and restriction in lifestyle than those with severe disease but with more limited therapeutic options. Given the multiple major advances in treatment for people with hemophilia, it is timely to review the aspects of nonsevere disease, to ensure equity in care and management for all individuals with this condition.","PeriodicalId":21673,"journal":{"name":"Seminars in thrombosis and hemostasis","volume":" ","pages":"58-67"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11750352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140909340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

The Evolution of Hemophilia Pharmacological Treatments and Therapeutic Targets at the Turn of the Third Millennium. 在第三个千年之交，血友病药物治疗和治疗目标的演变。

IF 3.6 2区医学

Seminars in thrombosis and hemostasis Pub Date : 2025-02-01 Epub Date: 2024-11-29 DOI: 10.1055/s-0044-1796629

Antonio Coppola, Matteo Zani, Gabriele Quintavalle, Daniele Focosi, Massimo Franchini

{"title":"The Evolution of Hemophilia Pharmacological Treatments and Therapeutic Targets at the Turn of the Third Millennium.","authors":"Antonio Coppola, Matteo Zani, Gabriele Quintavalle, Daniele Focosi, Massimo Franchini","doi":"10.1055/s-0044-1796629","DOIUrl":"10.1055/s-0044-1796629","url":null,"abstract":"Historically, the aim of treatment for hemophilia, the congenital X-linked hemorrhagic disorder due to deficiencies of coagulation Factor (F) VIII (hemophilia A) or FIX (hemophilia B), has been the replacement through factor concentrates, whose regular administration (i.e., prophylaxis) has been shown to be highly effective in preventing bleeding complications and it is currently considered the gold standard of hemophilia treatment. However, continuous technological progress (i.e., plasma-derived factor concentrates, recombinant standard and extended half-life [EHL] products) has allowed clinicians operating at hemophilia treatment centers to individualize the management of persons with hemophilia, improving outcomes, adherence to therapy, and their quality of life. The achievement of normal hemostasis, the final goal that now seems possible with new-generation EHL products, non-replacement and gene therapies, will translate into normalization of life for persons with hemophilia, also addressing health equity (i.e., rendering them indistinguishable from their healthy peers). The evolution of hemophilia treatment and, in parallel, of therapeutic targets in the management of hemophilia patients over the last decades will be critically discussed in this narrative review.","PeriodicalId":21673,"journal":{"name":"Seminars in thrombosis and hemostasis","volume":" ","pages":"10-17"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Advances in the Management of Hemophilia and Bleeding Disorders: Achievements and Perspectives. 血友病和出血性疾病管理的进展：成就和展望。

IF 3.6 2区医学

Seminars in thrombosis and hemostasis Pub Date : 2025-02-01 Epub Date: 2024-12-05 DOI: 10.1055/s-0044-1800835

Antonio Coppola, Massimo Franchini

引用次数: 0

Publisher's Note. 出版商说明。

IF 3.6 2区医学

Seminars in thrombosis and hemostasis Pub Date : 2025-02-01 Epub Date: 2024-11-13 DOI: 10.1055/s-0044-1795161

引用次数: 0

Emicizumab in Type 3 von Willebrand Disease: Report of a Case with an Alloantibody and Literature Review. 埃米珠单抗治疗 3 型 von Willebrand 病：伴有同种抗体的病例报告和文献综述。

IF 3.6 2区医学

Seminars in thrombosis and hemostasis Pub Date : 2025-02-01 Epub Date: 2024-06-27 DOI: 10.1055/s-0044-1787662

Anna C Giuffrida, Simona M Siboni, Luciano Baronciani, Giovanni Poli, Giorgio Gandini, Flora Peyvandi

{"title":"Emicizumab in Type 3 von Willebrand Disease: Report of a Case with an Alloantibody and Literature Review.","authors":"Anna C Giuffrida, Simona M Siboni, Luciano Baronciani, Giovanni Poli, Giorgio Gandini, Flora Peyvandi","doi":"10.1055/s-0044-1787662","DOIUrl":"10.1055/s-0044-1787662","url":null,"abstract":"Type 3 von Willebrand disease (VWD), the most severe form of VWD, is an inherited recessive bleeding disorder caused by the complete deficiency of von Willebrand factor (VWF). The reported prevalence is 1 per million but varies worldwide according to the frequency of consanguineous marriages. The clinical phenotype is characterized not only by mucocutaneous bleedings, but also by hemarthroses and muscle hematoma, as in patients with moderate hemophilia. Long-term prophylaxis with factor (F)VIII/VWF concentrates is recommended in patients with a history of severe and frequent bleeds. A rare complication of replacement therapy is the development of alloantibodies against VWF, with the consequences of an ineffective therapy and risk of anaphylactic reactions upon treatment. Emicizumab is the first bispecific monoclonal antibody that mimics FVIII coagulant activity and is approved for prophylaxis of bleeding in patients with inherited hemophilia A with or without inhibitors and recently also for acquired hemophilia. In this manuscript we report and discuss available data in the literature on the use of emicizumab in type 3 VWD and describe the case of a female patient with type 3 VWD with a history of alloantibodies against VWF and posttransfusion anaphylaxis, recently and successfully put on off-label prophylaxis with emicizumab.","PeriodicalId":21673,"journal":{"name":"Seminars in thrombosis and hemostasis","volume":" ","pages":"73-80"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141470548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Current Diagnosis of von Willebrand Disease in Italy: 3 Years Following the Release of the International Guidelines. 意大利目前对冯-威廉氏病的诊断情况：国际指南发布 3 年后的情况。

IF 3.6 2区医学

Seminars in thrombosis and hemostasis Pub Date : 2025-02-01 Epub Date: 2024-07-01 DOI: 10.1055/s-0044-1787841

Augusto B Federici

{"title":"Current Diagnosis of von Willebrand Disease in Italy: 3 Years Following the Release of the International Guidelines.","authors":"Augusto B Federici","doi":"10.1055/s-0044-1787841","DOIUrl":"10.1055/s-0044-1787841","url":null,"abstract":"The American Society of Hematology-International Society on Thrombosis and Haemostasis-National Hemophilia Foundation-World Federation of Hemophilia 2021 International Guidelines (IGL) on von Willebrand disease (VWD) have pointed out many challenges, mainly in the diagnostic approach of VWD patients. To determine the impact of these IGL on the current clinical and laboratory diagnosis of Italian VWD patients, we have recently conducted a survey among 43 centers affiliated with the Italian Association of Hemophilia Centers (AICE). Directors and colleagues responsible for the management of VWD patients were invited to report in a detailed questionnaire how IGL recommendations about the assessment of the specific activities of von Willebrand Factor (VWF) could be applied at their local sites. Results from such a survey showed that bleeding assessment tools, VWF antigen, and factor VIII procoagulant are currently in use in all centers. The automated assays for platelet-dependent VWF activity with or without ristocetin described in IGL have been used since 2021 in 37/43 (86%) centers. Among other laboratory tests, VWF collagen binding, ristocetin-induced platelet agglutination, multimeric analysis, VWF propeptide, VWF:FVIII binding assay were available in 49, 63, 26, 7, and 28% of AICE, respectively. Analyses of VWF gene defects are available only at 3/43 (7%) centers. Desmopressin (DDAVP) infusion trials at diagnosis, with measurements of VWF activities at 1 and 4 hours post-DDAVP, is currently performed at 38/43 (88%) centers. Based on this information, a simplified clinical diagnosis using a few automated tests before and after DDAVP has been proposed. Such a diagnostic approach will be validated prospectively in a large cohort of Italian VWD patients.","PeriodicalId":21673,"journal":{"name":"Seminars in thrombosis and hemostasis","volume":" ","pages":"81-90"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141477364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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