Hamostaseologie最新文献_第10页

Ungünstig veränderter Fibringerinnsel-Phänotyp bei Frauen nach postpartaler Blutung unbekannter Ursache: Einfluss niedriger Konzentration von Gerinnungsfaktoren. 由于未知原因导致产后出血的女性纤维状神经表型的不利变化：凝血因子浓度低的影响。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-01 Epub Date: 2025-10-15 DOI: 10.1055/s-0045-1812992

引用次数: 0

Hereditary Combined Deficiency of the Vitamin K-Dependent Coagulation Factors. 维生素k依赖性凝血因子的遗传性联合缺乏。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-01 Epub Date: 2025-06-04 DOI: 10.1055/a-2567-3567

Alexandre Raharimanana, Séverine Cunat, Céline Falaise, Caroline Oudot, Alexandra Fournel, Yesim Dargaud

{"title":"Hereditary Combined Deficiency of the Vitamin K-Dependent Coagulation Factors.","authors":"Alexandre Raharimanana, Séverine Cunat, Céline Falaise, Caroline Oudot, Alexandra Fournel, Yesim Dargaud","doi":"10.1055/a-2567-3567","DOIUrl":"10.1055/a-2567-3567","url":null,"abstract":"Hereditary combined vitamin K-dependent coagulation factor deficiency (VKCFD) is an extremely rare autosomal recessive genetic disorder characterized by deficiencies in vitamin K-dependent coagulation factors and natural anticoagulants. The condition presents with a spectrum of bleeding symptoms ranging from mild to severe, often beginning in the neonatal period. These bleeding episodes can be particularly severe and even life-threatening, occurring spontaneously or during surgery. In addition to bleeding problems, individuals with VKCFD may experience a variety of non-hemostatic problems, including skeletal deformities, cardiovascular abnormalities, and skin conditions.VKCFD is caused by variants in the genes encoding either γ-glutamyl carboxylase or the vitamin K 2,3-epoxide reductase complex. Both proteins play a critical role in γ-carboxylation, a posttranslational modification that is essential for the proper function of vitamin K-dependent proteins. Timely and accurate diagnosis is essential to differentiate VKCFD from other genetic and acquired disorders, and genetic testing is required to identify the specific variant.The primary treatment for VKCFD is the administration of vitamin K, with transfusions of fresh frozen plasma often required during surgery or in cases of severe bleeding. In certain situations, alternative therapies such as prothrombin complex concentrates (PCCs) or a combination of recombinant activated factor VII and vitamin K may be considered. With appropriate treatment, individuals with VKCFD generally have a good clinical outcome, and the condition has a limited impact on their quality of life. This article presents a comprehensive review of all 57 VKCFD cases documented in the literature, as well as 4 new, unpublished cases from France.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"396-404"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144337279","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

Management of Young and Ageing Women with Afibrinogenemia and Hypofibrinogenemia. 年轻和老年妇女纤维蛋白原血症和低纤维蛋白原血症的管理。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-01 Epub Date: 2025-05-27 DOI: 10.1055/a-2568-1255

Alessandro Casini, Philippe de Moerloose

{"title":"Management of Young and Ageing Women with Afibrinogenemia and Hypofibrinogenemia.","authors":"Alessandro Casini, Philippe de Moerloose","doi":"10.1055/a-2568-1255","DOIUrl":"10.1055/a-2568-1255","url":null,"abstract":"Congenital afibrinogenemia and hypofibrinogenemia are rare hereditary coagulation disorders characterized by the absence or deficiency of fibrinogen. These conditions pose unique challenges for women across their lifespan, including heavy menstrual bleeding (HMB), hemorrhagic ovarian cysts, complications during pregnancy and the postpartum period, as well as bleeding occurring later in life. HMB is frequent and adversely impacts quality of life, often necessitating hormonal therapy, antifibrinolytics, or fibrinogen replacement. Hemorrhagic ovarian cysts can result in life-threatening hemoperitoneum, requiring prompt intervention to manage bleeding and preserve ovarian function. Pregnancy in women with severe fibrinogen deficiencies carries a high risk of miscarriage, placental abruption, and postpartum hemorrhage. Multidisciplinary care, fibrinogen replacement, and vigilant monitoring are crucial to optimize maternal and fetal outcomes. Although understudied in this population, bleeding can occur later in their life, especially due to the increased incidence of gynecological pathologies. Tailored management strategies, including hormonal and surgical interventions, are essential. Despite recent advances in our understanding of these conditions, significant knowledge gaps persist regarding the prevalence, risk factors, and optimal management of specific complications. This review synthesizes current findings and provides practical recommendations to guide the care of young and ageing women with afibrinogenemia and hypofibrinogenemia. Further research is needed to refine treatment protocols and improve outcomes for this vulnerable population.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"390-395"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144163961","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

Pharmazeutische Unternehmen außerhalb der USA unter Druck. 美国以外的制药公司面临压力。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-01 Epub Date: 2025-10-15 DOI: 10.1055/s-0045-1812019

Jürgen Koscielny, Christoph Sucker

引用次数: 0

Overview on Rare Congenital Bleeding Disorders and Epidemiological Data from the German Haemophilia Registry (DHR) and a Survey in Germany, Austria, and Switzerland. 来自德国血友病登记处（DHR）和德国、奥地利和瑞士的一项调查的罕见先天性出血性疾病和流行病学数据概述。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-01 Epub Date: 2025-10-15 DOI: 10.1055/a-2681-4611

Katharina Holstein, Kai Gutensohn, Rosa Sonja Alesci, Manuela Krause, Ute Scholz, Cornelia Wermes, Susan Halimeh

{"title":"Overview on Rare Congenital Bleeding Disorders and Epidemiological Data from the German Haemophilia Registry (DHR) and a Survey in Germany, Austria, and Switzerland.","authors":"Katharina Holstein, Kai Gutensohn, Rosa Sonja Alesci, Manuela Krause, Ute Scholz, Cornelia Wermes, Susan Halimeh","doi":"10.1055/a-2681-4611","DOIUrl":"10.1055/a-2681-4611","url":null,"abstract":"Rare bleeding disorders (RBDs), defined as hereditary coagulation factor deficits other than haemophilia, are characterized by a heterogenous clinical phenotype ranging from life-threatening bleeding to thrombosis. There are uncertainties concerning treatment intensity and levels needed to achieve haemostasis, and epidemiological data from Germany, Austria, and Switzerland (GTH region) are scarce.We performed a narrative literature review, focusing on bleeding phenotype and thrombotic risk. Epidemiologic data, including adults and children, and general treatment approaches have been collected via an online survey among GTH haemophilia centres (all categories) and the general information service of the German national registry (Deutsches Hämophilieregister, DHR).We provided an overview on RBDs, revealing that especially in FV, FVII, and FXI deficiencies, the correlation between factor levels and bleeding phenotype is poor. A thrombotic risk needs to be considered in FVII deficiency and afibrinogenaemia or dysfibrinogenaemia. The survey was completed by 34 centres from Germany, Austria, and Switzerland, and compared with 137 centres reporting data to the DHR. FVII deficiency was confirmed to be the most frequent, and FII deficiency was the rarest RBD in this region. For treatment, single factor concentrates were preferred over multifactor concentrates or plasma, and tranexamic acid was often part of the treatment. Approximately 30, 40, and <10% of patients with severe FV, FVII, and FXI deficiency (defined as factor level <10%), respectively, were receiving prophylactic treatment, suggesting an overall milder bleeding phenotype.More detailed registry data could give insights into the treatment landscape of RBDs, considering the challenge of clinical trials in rare diseases.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"45 5","pages":"378-389"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304403","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

Blutverlust bei Frauen im gebärfähigen Alter aufgrund oraler Antikoagulanzien gegen venöse Thromboembolien. 育龄妇女因口服抗凝药物治疗静脉血栓栓塞而失血。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-01 Epub Date: 2025-10-15 DOI: 10.1055/s-0045-1812991

引用次数: 0

Rare Congenital Bleeding Disorders - Challenges Remain. 罕见的先天性出血性疾病-挑战仍然存在。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-01 Epub Date: 2025-10-15 DOI: 10.1055/a-2698-0400

Katharina Holstein, Barbara Zieger

引用次数: 0

Implications of the API-CAT Trial for Extended Secondary Prophylaxis of Cancer-associated Venous Thromboembolism: Guidance from an Expert Panel. API-CAT试验对癌症相关静脉血栓栓塞的扩展二级预防的意义：专家小组的指导

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-07 DOI: 10.1055/a-2645-4927

Florian Langer, Christina Hart, Kai-Michael Klima, Sandra Marten, Katja S Mühlberg, Christian Pfrepper, Rupert Bauersachs

{"title":"Implications of the API-CAT Trial for Extended Secondary Prophylaxis of Cancer-associated Venous Thromboembolism: Guidance from an Expert Panel.","authors":"Florian Langer, Christina Hart, Kai-Michael Klima, Sandra Marten, Katja S Mühlberg, Christian Pfrepper, Rupert Bauersachs","doi":"10.1055/a-2645-4927","DOIUrl":"https://doi.org/10.1055/a-2645-4927","url":null,"abstract":"Venous thromboembolism (VTE) is an increasingly frequent complication of solid tumors and hematological malignancies, significantly contributing to morbidity and mortality. In patients with acute cancer-associated VTE, therapeutic anticoagulation with direct oral factor Xa inhibitors (DXIs) or low-molecular-weight heparin (LMWH) for 3 to 6 months is recommended by clinical practice guidelines based on randomized controlled trials. Although extended secondary VTE prophylaxis should be considered in patients with persisting active cancer, the type, intensity, and duration of continued anticoagulation have not been rigorously studied until recently. In non-cancer patients, low-dose DXIs (apixaban 2.5 mg BID or rivaroxaban 10 mg OD) are the preferred options to prevent recurrent VTE beyond the first 6 months of treatment. The recently published API-CAT trial compared low-dose with full-dose apixaban for extended secondary VTE prophylaxis in 1,766 patients with active cancer. Over a 12-month period, low-dose apixaban was associated with similar efficacy, but significantly improved safety compared with full-dose apixaban, with cumulative incidence rates of recurrent VTE and major or clinically relevant non-major bleeding of 2.1% versus 2.8% (adjusted subhazard ratio [sHR]: 0.76; 95% confidence interval [CI]: 0.41-1.41; p < 0.001 for noninferiority) and 12.1% versus 15.6% (adjusted sHR: 0.75; 95% CI: 0.58-0.97; p = 0.03 for superiority), respectively. Based on these findings, extended secondary VTE prophylaxis with low-dose DXIs, preferably apixaban 2.5 mg BID, is proposed for most patients with persisting active cancer. To facilitate informed decision-making in clinical practice, we provide an expert consensus on criteria that either justify cessation of anticoagulation or require continued full-dose anticoagulation.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800896","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

Recurrent Venous Thrombosis in a Hypofibrinogenemic Patient Despite a Heterozygous Deletion of the Fibrinogen Gene Cluster and Hemizygous FGB p.Pro265Leu Variant Mimicking a Homozygous Genotype. 尽管纤维蛋白原基因簇杂合缺失和半合子FGB p.Pro265Leu变异模拟纯合子基因型，但低纤维蛋白原患者复发性静脉血栓形成

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-07 DOI: 10.1055/a-2627-2741

Sutharshini Punniyamoorthy, Eva Birgitte Leinøe, Esther Agnete Jensen, Emil Daniel Bartels, Inge Søkilde Pedersen, Mustafa Vakur Bor

{"title":"Recurrent Venous Thrombosis in a Hypofibrinogenemic Patient Despite a Heterozygous Deletion of the Fibrinogen Gene Cluster and Hemizygous FGB p.Pro265Leu Variant Mimicking a Homozygous Genotype.","authors":"Sutharshini Punniyamoorthy, Eva Birgitte Leinøe, Esther Agnete Jensen, Emil Daniel Bartels, Inge Søkilde Pedersen, Mustafa Vakur Bor","doi":"10.1055/a-2627-2741","DOIUrl":"https://doi.org/10.1055/a-2627-2741","url":null,"abstract":"Hypofibrinogenemia is a congenital fibrinogen disorder characterized by a proportional decrease of functional and antigenic fibrinogen levels. Herein, we present a unique case illustrating the complex genotype-phenotype relationship in hypofibrinogenemia and the inability of low fibrinogen levels to counteract hypercoagulability.A 77-year-old male with factor V Leiden heterozygosity experienced surgery-related deep vein thrombosis at ages 65 and 71, along with poor wound healing and postoperative hematomas. Proportionally reduced functional and antigenic fibrinogen levels revealed hypofibrinogenemia. Whole exome sequencing identified a heterozygous fibrinogen gene cluster deletion and a hemizygous variant (p.Pro265Leu, rs6054) in the fibrinogen β (FGB) gene, both of which are associated with hypofibrinogenemia. The youngest son, who has noticeably higher fibrinogen levels, shares the deletion but does not carry the hemizygous FGB variant. This suggests that the FGB variant (p.Pro265Leu) contributes to a greater reduction in fibrinogen levels.This case suggests that the coexistence of thrombotic risk factors and potentially reduced thrombin clearance-resulting from low fibrinogen levels due to a fibrinogen gene cluster deletion and a hemizygous FGB variant-may shift the hemostatic balance toward thrombosis in a patient with moderate hypofibrinogenemia.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800980","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

Outcome of Surgical Interventions in Patients with Haemophilia A and B Treated with Extended Half-Life (EHL) Factor Concentrates in a Single Centre. 单一中心延长半衰期（EHL）因子浓缩治疗血友病A和B患者手术干预的结果

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-07 DOI: 10.1055/a-2599-9611

Ines Vaide, Saskia Gottstein, Cornelia Kubicek-Hofmann, Ana Maria Orlovic, Robert Klamroth

{"title":"Outcome of Surgical Interventions in Patients with Haemophilia A and B Treated with Extended Half-Life (EHL) Factor Concentrates in a Single Centre.","authors":"Ines Vaide, Saskia Gottstein, Cornelia Kubicek-Hofmann, Ana Maria Orlovic, Robert Klamroth","doi":"10.1055/a-2599-9611","DOIUrl":"https://doi.org/10.1055/a-2599-9611","url":null,"abstract":"The prevention of intraoperative bleeding in patients with haemophilia is the key to a successful surgical procedure. Daily life of patients with haemophilia A and B significantly improved with prophylaxis with extended half-life factor concentrates (EHL-FVIII and EHL-FIX). The aim of this study was to investigate the efficacy and safety of EHL factor concentrates during surgery.In a retrospective chart review all surgical interventions in our hospital in patients with haemophilia A and B treated with EHL-FVIII or EHL-FIX undergoing surgery between 2016 and 2022 were included. Patients with inhibitors against FVIII or FIX were excluded.A total of 88 surgical interventions (41 minor, 47 major) in 52 patients with haemophilia were performed. The interventions consisted of 70 surgeries in 42 patients with haemophilia A and 18 surgeries in 10 patients with haemophilia B. The replacement therapy during the surgeries was performed with four different EHL FVIII and three different EHL FIX concentrates. Bolus injections were performed directly before surgery and continued after surgery with variable intervals ranging from 8 to 48 hours. The median dose before major surgery was 32.31 IU/kg FVIII and 47.06 IU/kg FIX and before minor surgery was 27.78 IU/kg FVIII and 33.78 IU/kg factor IX. There were 11 complications including 4 bleeding complications during/after surgery. No thromboembolic event and no inhibitor against FVIII or FIX were detected during follow-up.The replacement therapy with EHL factor concentrates in surgical interventions in patients with haemophilia A and B is safe and effective.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800897","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