Hamostaseologie最新文献

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 2.7 4区医学

Hamostaseologie Pub 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 This article presents a comprehensive review of all 57 VKCFD cases documented in the literature, as well as 4 new, unpublished cases from France.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"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":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-04","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

The Diagnostic Assessment of Inherited Platelet Function Defects - Part 1: An Overview of the Diagnostic Approach and Laboratory Methods. 遗传性血小板功能缺陷的诊断评估。

IF 2.7 4区医学

Hamostaseologie Pub Date : 2025-06-01 Epub Date: 2025-01-27 DOI: 10.1055/a-2436-5318

Gero Hoepner, Karina Althaus, Jens Müller, Barbara Zieger, Anna Pavlova, Doris Boeckelmann, Ralf Knöfler, Peter Bugert, Beate Kehrel, Werner Streif, Ingvild Birschmann, Heiko Rühl, Ulrich Sachs, Florian Prüller, Carlo Zaninetti, Harald Schulze, Nina Cooper, Kerstin Jurk, Tamam Bakchoul

{"title":"The Diagnostic Assessment of Inherited Platelet Function Defects - Part 1: An Overview of the Diagnostic Approach and Laboratory Methods.","authors":"Gero Hoepner, Karina Althaus, Jens Müller, Barbara Zieger, Anna Pavlova, Doris Boeckelmann, Ralf Knöfler, Peter Bugert, Beate Kehrel, Werner Streif, Ingvild Birschmann, Heiko Rühl, Ulrich Sachs, Florian Prüller, Carlo Zaninetti, Harald Schulze, Nina Cooper, Kerstin Jurk, Tamam Bakchoul","doi":"10.1055/a-2436-5318","DOIUrl":"10.1055/a-2436-5318","url":null,"abstract":"In this article, our goal is to offer an introduction and overview of the diagnostic approach to inherited platelet function defects (iPFDs) for clinicians and laboratory personnel who are beginning to engage in the field. We describe the most commonly used laboratory methods and propose a diagnostic four-step approach, wherein each stage requires a higher level of expertise and more specialized methods. It should be noted that our proposed approach differs from the ISTH Guidance on this topic in some points. The first step in the diagnostic approach of iPFD should be a thorough medical history and clinical examination. We strongly advocate for the use of a validated bleeding score like the ISTH-BAT (International Society on Thrombosis and Haemostasis Bleeding Assessment Tool). External factors like diet and medication have to be considered. The second step should rule out plasmatic bleeding disorders and von Willebrand disease. Once this has been accomplished, the third step consists of a thorough platelet investigation of platelet phenotype and function. Established methods consist of blood smear analysis by light microscopy, light transmission aggregometry, and flow cytometry. Additional techniques such as lumiaggregometry, immune fluorescence microscopy, and platelet-dependent thrombin generation help confirm and specify the diagnosis of iPFD. In the fourth and last step, genetic testing can confirm a diagnosis, reveal novel mutations, and allow to compare unclear genetics with lab results. If diagnosis cannot be established through this process, experimental methods such as electron microscopy can give insight into the underlying disease.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"229-242"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054086","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

Blutungsrisiko bei NSAIR unter Antikoagulanzien. 抗凝剂下的非甾体抗炎药出血风险。

IF 2.7 4区医学

Hamostaseologie Pub Date : 2025-06-01 Epub Date: 2025-06-23 DOI: 10.1055/s-0045-1809871

引用次数: 0

Multisite Thrombosis in a Patient with Paroxysmal Nocturnal Hemoglobinuria. 一名阵发性夜间血红蛋白尿患者的多处血栓形成。

IF 2.7 4区医学

Hamostaseologie Pub Date : 2025-06-01 Epub Date: 2024-02-09 DOI: 10.1055/a-2231-5277

Lennart Beckmann, Tobias D Faizy, Fabian Flottmann, Jens Fiehler, Carsten Bokemeyer, Lennart Well, Antonia Beitzen-Heineke, Florian Langer

引用次数: 0

Die Gesellschaft für Thrombose- und Hämostaseforschung e.V. Informiert. 血栓和止血研究协会。

IF 2.7 4区医学

Hamostaseologie Pub Date : 2025-06-01 Epub Date: 2025-06-23 DOI: 10.1055/a-2568-4247

引用次数: 0

The Diagnostic Assessment of Platelet Function Defects - Part 2: Update on Platelet Disorders. 血小板功能缺陷的诊断评估。

IF 2.7 4区医学

Hamostaseologie Pub Date : 2025-06-01 Epub Date: 2025-01-27 DOI: 10.1055/a-2404-0216

Karina Althaus, Gero Hoepner, Barbara Zieger, Florian Prüller, Anna Pavlova, Doris Boeckelmann, Ingvild Birschmann, Jens Müller, Heiko Rühl, Ulrich Sachs, Beate Kehrel, Werner Streif, Peter Bugert, Carlo Zaninetti, Nina Cooper, Harald Schulze, Ralf Knöfler, Tamam Bakchoul, Kerstin Jurk

{"title":"The Diagnostic Assessment of Platelet Function Defects - Part 2: Update on Platelet Disorders.","authors":"Karina Althaus, Gero Hoepner, Barbara Zieger, Florian Prüller, Anna Pavlova, Doris Boeckelmann, Ingvild Birschmann, Jens Müller, Heiko Rühl, Ulrich Sachs, Beate Kehrel, Werner Streif, Peter Bugert, Carlo Zaninetti, Nina Cooper, Harald Schulze, Ralf Knöfler, Tamam Bakchoul, Kerstin Jurk","doi":"10.1055/a-2404-0216","DOIUrl":"10.1055/a-2404-0216","url":null,"abstract":"Congenital platelet disorders are rare and targeted treatment is usually not possible. Inherited platelet function disorders (iPFDs) can affect surface receptors and multiple platelet responses such as defects of platelet granules, signal transduction, and procoagulant activity. If iPFDs are also associated with a reduced platelet count (thrombocytopenia), it is not uncommon to be misdiagnosed as immune thrombocytopenia. Because the bleeding tendency of the different platelet disorders is variable, a correct diagnosis of the platelet defect based on phenotyping, function analysis, and genotyping is essential, especially in the perioperative setting. In the case of a platelet receptor deficiency, such as Bernard-Soulier syndrome or Glanzmann thrombasthenia, not only the bleeding tendency but also the risk of isoimmunization after platelet transfusions or pregnancy has to be considered. Platelet granule disorders are commonly associated with either intrinsically quantitative or qualitative granule defects due to impaired granulopoiesis, or granule release defects, which can also affect additional signaling pathways. Functional platelet defects require expertise in the clinical bleeding tendency in terms of the disorder when using antiplatelet agents or other medications that affect platelet function. Platelet defects associated with hematological-oncological diseases require comprehensive information about the patient including the clinical implication of the genetic testing. This review focuses on genetics, clinical presentation, and laboratory platelet function analysis of iPFDs with or without reduced platelet number. As platelet defects affecting the cytoskeleton usually show thrombocytopenia, but less impaired or normal platelet functional responses, they are not specifically addressed.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"243-253"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054087","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

Oral Anticoagulation and Mortality in Cases with Intracranial Bleeding: Analysis of Nationwide Prescription and Hospitalization Data. 口服抗凝药与颅内出血病例的死亡率：全国处方和住院数据分析》。

IF 2.7 4区医学

Hamostaseologie Pub Date : 2025-06-01 Epub Date: 2024-02-05 DOI: 10.1055/a-2229-8047

Knut Kröger, Fabian Heldt, Ludger Feyen, Kathrin Feller, Bernd Kowall, Andreas Stang

{"title":"Oral Anticoagulation and Mortality in Cases with Intracranial Bleeding: Analysis of Nationwide Prescription and Hospitalization Data.","authors":"Knut Kröger, Fabian Heldt, Ludger Feyen, Kathrin Feller, Bernd Kowall, Andreas Stang","doi":"10.1055/a-2229-8047","DOIUrl":"10.1055/a-2229-8047","url":null,"abstract":"Objectives: To demonstrate the safety of direct oral anticoagulants in relation to intracranial bleeding (ICB), we compared the number of patients taking anticoagulants in all cases of hospitalization and cases of hospitalization for ICB over time in Germany. We analyzed the intrahospital mortality of ICB cases in relation to long-term use of anticoagulants (LUAs).We performed a retrospective registry analysis of nationwide German hospitalizations including all hospital admissions and admission for ICB in patients aged ≥60 years in the period from 2006 to 2020 and separated for LUAs.Results: In 2006, the age-standardized rate of hospitalized male patients with LUAs was 7.3% and that of female patients was 5.6%. In 2020, the rates increased to 22.0 and 17.7% for male and female patients, respectively. Among patients hospitalized for ICB in 2006, 7.0 and 5.6% were male and female patients with LUAs, respectively. In 2020, the rate increased to 13.7% for males and 10.8% for females.In 2006, age-standardized mortality rates of male and female patients with ICB without LUAs were 24.1 and 23.9%, respectively. In 2020, the rate slightly decreased to 22.7% in males, but it remained almost unchanged in females at 23.8%. In the cases with LUA, the mortality rate decreased from 30.1 to 24.3% in males and from 28.4 to 24.2% in females in the same period.Conclusion: LUA seems to be safe because there is a slower increase of the rate of LUAs in ICB cases than in generally hospitalized cases in the period from 2006 to 2020. In addition, mortality in ICB cases with LUA tends to decrease compared to cases without LUA.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"254-261"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139693603","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

Alleinige Edoxaban-Therapie bei Vorhofflimmern und stabiler koronarer Herzkrankheit. 单剂量依地沙班治疗房颤和稳定冠状动脉疾病。

IF 2.7 4区医学

Hamostaseologie Pub Date : 2025-06-01 Epub Date: 2025-06-23 DOI: 10.1055/s-0045-1809870

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 2.7 4区医学

Hamostaseologie Pub 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":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-27","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

Evidence in Haemophilia Assessment: The Haemophilia Joint Health Score. 血友病评估的证据：血友病关节健康评分。

IF 2.7 4区医学

Hamostaseologie Pub Date : 2025-05-23 DOI: 10.1055/a-2575-1475

Lukas Graf

引用次数: 0