Hamostaseologie最新文献

{"title":"Beyond Conventional Hemostasis Testing: The Diagnostic Impact of Genetic Analysis in inherited Mild Bleeding Disorders.","authors":"Behnaz Pezeshkpoor, Anna Pavlova","doi":"10.1055/a-2887-8141","DOIUrl":"https://doi.org/10.1055/a-2887-8141","url":null,"abstract":"<p><strong>Abstract: </strong>Mild bleeding disorders (MBDs) comprise a heterogeneous group of inherited conditions characterized by clinically relevant bleeding symptoms despite largely normal or inconclusive results in routine hemostatic testing. These disorders account for a substantial proportion of referrals to specialized hemostasis clinics and include von Willebrand disease (VWD), inherited platelet function disorders, and mild coagulation factor deficiencies. Despite systematic diagnostic algorithms, many patients with MBDs remain without a definitive diagnosis and are classified as having bleeding disorder of unknown cause (BDUC), complicating clinical management and counseling. Conventional diagnostic approaches rely on structured bleeding assessment tools, detailed family history, and stepwise laboratory testing. Biological variability, assay limitations, and phenotypic overlap often result in inconclusive findings.</p><p><strong>Abstract: </strong>Recent advances in genetic analysis have begun to transform this diagnostic landscape. Targeted next-generation sequencing panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS) enable identification of pathogenic variants across numerous hemostasis-related genes. In MBDs, genetic testing is valuable for refining diagnoses in qualitative VWD, confirming inherited platelet disorders, and identifying rare mild coagulopathies. In contrast, its diagnostic yield in type 1 and low von Willebrand factor (VWF) is modest, reflecting complex genetic architecture, modifier effects, and incomplete penetrance. In BDUC, genetic testing has revealed monogenic causes in some patients and multifactorial contributions in others.</p><p><strong>Abstract: </strong>Genetic testing should therefore be regarded as a complementary tool rather than a replacing conventional diagnostics. Integrated with clinical and laboratory findings and supported by expert variant interpretation, it can reduce diagnostic uncertainty and improve disease classification in patients with MBDs.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148284791","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}

{"title":"Coagulation Disorders in Philadelphia Chromosome-negative Myeloproliferative Neoplasms-A Guide for Specialists in Coagulation Disorders.","authors":"Christina Hart, Andreas Tiede, Christina C Rolling, Karolin Trautmann-Grill","doi":"10.1055/a-2882-0640","DOIUrl":"https://doi.org/10.1055/a-2882-0640","url":null,"abstract":"<p><strong>Abstract: </strong>Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) are acquired clonal disorders of hematopoiesis that typically cause thromboembolic and hemorrhagic complications. These include an increased risk of both arterial and venous thromboembolic events as well as a heightened bleeding tendency. Venous thromboembolic events frequently manifest at atypical sites and characteristically present as splanchnic vein thrombosis. A common cause of the elevated bleeding risk is acquired von Willebrand syndrome. Clinical indicators of an underlying MPN include thromboembolic events of unclear etiology or occurring at atypical sites, as well as acquired cutaneous or mucocutaneous bleeding tendencies. A hallmark of MPN in peripheral blood counts is hyperproliferation. Further diagnostic evaluation includes testing for the three major driver mutations (JAK2, CALR, MPL) and bone marrow biopsy. Management of thromboembolic event requires cytoreductive therapy and, depending on the site of thrombosis, antiplatelet therapy, and/or anticoagulation.</p><p><strong>Abstract: </strong>Our review provides an overview of essential thrombocythemia, polycythemia vera, and primary myelofibrosis, as well as the hemostatic disorders associated with these conditions, focusing on diagnostic approaches and the prophylaxis and management of thromboembolic and bleeding complications.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148229433","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}

{"title":"Risk Factors, Biomarkers, and Risk Assessment Models for Prediction of Venous Thromboembolism in Ambulatory Patients with Advanced Lung Cancer.","authors":"Leyla Ay, Florian Moik, Thorsten Füreder, Nikola Vladic, Cihan Ay, Ingrid Pabinger, Julia Riedl","doi":"10.1055/a-2882-0557","DOIUrl":"https://doi.org/10.1055/a-2882-0557","url":null,"abstract":"<p><strong>Summary: </strong>BACKGROUND: Patients with lung cancer are at high risk of developing venous thromboembolism (VTE). Although several risk assessment models (RAMs) for cancer-associated VTE exist, their performance in advanced lung cancer is uncertain. This study investigated VTE incidence and risk prediction in patients with advanced lung cancer.</p><p><strong>Summary: </strong>METHODS: In a subinvestigation of the Vienna Cancer and Thrombosis Study (CATS), a prospective cohort study investigating risk factors for cancer-associated VTE, data from patients with advanced lung cancer initiating chemotherapy were analyzed.</p><p><strong>Summary: </strong>RESULTS: Of 277 patients (median age 61 years [IQR 56-67], 37% female; 89% received palliative treatment), 25 developed VTE during the 2-year observation period; with 24 events occurring in the first year. The cumulative VTE incidence was 6.6% (95% confidence interval [CI] 4.0-10.0), 9.3% (6.2-12.3), and 9.8% (6.5-13.8) at 6, 12, and 24 months, respectively. While several RAM (Khorana score, CONKO, PROTECHT, m-LCPI, HYPERCAN model) did not predict risk of VTE in our cohort, the CATScore identified patients at high risk of VTE (subdistribution hazard ratio [SHR, 95% CI] for CATScore ≥8% risk vs. <8% risk: 3.43 [1.11-10.55], <i>p</i> = 0.032). Laboratory parameters associated with risk of VTE included higher D-dimer, higher CRP, and lower platelet counts. Based on these biomarkers, we exploratively derived a simplified biomarker-based risk model.</p><p><strong>Summary: </strong>CONCLUSIONS: In this cohort of patients with advanced lung cancer, most established RAM showed limited discriminative ability. The CATScore and a newly derived biomarker-based model demonstrated signals of risk stratification. These findings require confirmation in larger independent cohorts.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148213413","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}

{"title":"Untersuchung der initialen Thrombingenerierung bei Herz-Kreislauf-Erkrankungen mittels eines hochsensitiven Gerinnungstests.","authors":"","doi":"10.1055/a-2880-8208","DOIUrl":"https://doi.org/10.1055/a-2880-8208","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"46 3","pages":"161-162"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304058","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}

{"title":"Die Gesellschaft für Thrombose- und Hämostaseforschung e.V. informiert.","authors":"Florian Langer","doi":"10.1055/a-2785-2278","DOIUrl":"https://doi.org/10.1055/a-2785-2278","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"46 3","pages":"216-217"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304084","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}

{"title":"GKV-Beitragsstabilisierungsgesetz, Elektronische Patientenakte und genetische Befunde, Änderung bei Blutentnahmesystemen.","authors":"Christoph Sucker, Jürgen Koscielny","doi":"10.1055/a-2785-2119","DOIUrl":"https://doi.org/10.1055/a-2785-2119","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"46 3","pages":"219-221"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304033","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}

{"title":"Management of Adult Patients with Newly Diagnosed or Relapsed Primary Immune Thrombocytopenia in Eastern Austria.","authors":"Jasmin Rast, Theresa Schramm, Dino Mehic, Michael Fillitz, Tanja Drexel, Veronika Neusiedler-Nicolas, Cihan Ay, Ingrid Pabinger, Johanna Gebhart","doi":"10.1055/a-2404-0306","DOIUrl":"10.1055/a-2404-0306","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Treatment sequence in primary immune thrombocytopenia (ITP) is based on national and international recommendations, treatment availability, and physician expertise.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Aim: &lt;/strong&gt;This article aimed to provide real-world data on treatment sequence and responses to first- and second-line treatments in newly diagnosed and relapsed adult ITP patients.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We analyzed a cohort of 46 adult ITP patients from the Vienna ITP Biobank, who started first-line therapy within 1 week before their first study visit between February 2016 and March 2023. We investigated clinical patient characteristics and patient management in our specialized center and examined the impact of the international ASH guidelines on ITP treatment.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Forty-six primary ITP patients, 27 (58.7%) with newly diagnosed ITP and 19 (41.3%) with relapsed ITP, were investigated. Most patients were female (65.2%) with a median platelet count of 9 × 10&lt;sup&gt;9&lt;/sup&gt;/L, and 31 patients (67.4%) had bleeding symptoms. All patients received first-line treatment with oral prednisolone; 15 patients received oral prednisolone combined with intravenous immunoglobulins (IVIGs), which were more commonly administered in newly diagnosed than in relapsed ITP patients. First-line therapy resulted an overall response in 82.6% of patients after a median (interquartile range [IQR]) time of 10 (5-25) days. There was no difference in treatment responses between newly diagnosed and relapsed ITP patients, but newly diagnosed patients had a shorter time to response (median [IQR]: 8 [5-14] and 14 [8-27], &lt;i&gt;p&lt;/i&gt; = 0.02). Twenty-three (50%) of the patients (11/27 newly diagnosed [40.7%], 12/19 relapsed [63.2%]) required second-line ITP therapy. Thrombopoietin-receptor agonists (TPO-RAs) were the most commonly used second-line therapy with a response rate of 73.7%, and a median (IQR) time to treatment response of 15 (12-20) days. Overall response rates to TPO-RA treatment did not differ between newly diagnosed and relapsed ITP. Following the publication of novel guidelines in 2019, the median (IQR) duration of corticosteroid treatment shortened (100-52 days, &lt;i&gt;p&lt;/i&gt; = 0.01), as did the time to second-line treatment (160-47 days, &lt;i&gt;p&lt;/i&gt; = 0.01), and the median number of first-line therapies decreased from 2 (1-3) to 1 (1-2).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Initial treatment with corticosteroids was effective in the majority of newly diagnosed and relapsed ITP. Response rates to initial corticosteroid treatment in ITP patients are consistent with previous data, but only 50% achieve sustained remission. TPO-RAs, which are well tolerated and effective, are the most commonly used second-line therapy in our study population. International guidelines have led to faster treatment transitions and reduced splenectomy rates. Integration of real-life experience, expert consensus, and guidelines optimizes ITP patient management","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"196-205"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584915","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}

{"title":"Molecular and Clinical Risk Factors Associated with Thrombosis and Bleeding in Myelofibrosis Patients.","authors":"Olga Morath, Carl Crodel, Jenny Rinke, Inken Sander, Aysun Tekbas, Manja Meggendorfer, Constance Baer, Andreas Hochhaus, Thomas Ernst","doi":"10.1055/a-2410-8530","DOIUrl":"10.1055/a-2410-8530","url":null,"abstract":"<p><strong>Background: </strong>The risk of thrombosis and bleeding in myelofibrosis (MF) has been historically underappreciated. We sought to investigate potential molecular and clinical risk factors for venous (VTE) and arterial (ATE) thrombotic events as well as bleeding episodes.</p><p><strong>Methods: </strong>Data from 246 consecutive MF patients were analyzed. Driver mutations were tested in 191 patients.</p><p><strong>Results: </strong>In total, 181 mutations were found in 177 MF patients: 118 (61.8%) patients showed <i>JAK2</i>-<i>V617F</i>, 50 patients (26.2%) showed <i>CALR</i>, and 6 patients (3.1%) showed <i>MPL</i> mutations. Two patients were <i>JAK2</i>-<i>V617F</i> and <i>MPL</i> positive and one patient was positive for all three genes. Fourteen (7.3%) patients were triple negative. The <i>JAK2</i>-<i>V617F</i> allele burden was assessed in 63 <i>JAK2-V617F</i>-mutated patients, revealing a median of 35.6% (range: 5.0-96.0). At the time of MF diagnosis and during follow-up, 84 thrombotic events (52 VTEs and 32 ATEs) were observed, corresponding to 6.6% of patients per year. A significant association was found between <i>JAK2-V617F</i> mutation (OR: 2.5, 95% CI: 1.1-5.6) and prior VTE (OR: 7.6, 95% CI: 2.1-27.1) with an increased risk of VTE. Patients with prefibrotic MF had a higher rate of ATE than patients with overt MF. Hemorrhagic events occurred in 34 (13.8%) patients, corresponding to 3.8% of patients per year. Fibrosis grade 3 was associated with bleeding risk (OR: 3.4, 95% CI: 1.2-9.2, <i>p</i> = 0.02).</p><p><strong>Conclusions: </strong>The presence of the <i>JAK2-V617F</i> mutation, regardless of allele burden, and prior thrombosis were strongly associated with an increased risk of VTE. Patients with prefibrotic MF might be considered at high risk for developing ATE.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"171-178"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873559","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}

{"title":"Baseline Platelet Count Predicts Infarct Size and Mortality after Acute Myocardial Infarction.","authors":"Alexander Dutsch, Christian Graesser, Sophie Novacek, Johannes Krefting, Viktoria Schories, Benedikt Niedermeier, Felix Voll, Sebastian Kufner, Erion Xhepa, Michael Joner, Salvatore Cassese, Heribert Schunkert, Gjin Ndrepepa, Adnan Kastrati, Thorsten Kessler, Hendrik B Sager","doi":"10.1055/a-2299-0130","DOIUrl":"10.1055/a-2299-0130","url":null,"abstract":"<p><strong>Introduction: </strong>Platelets greatly contribute to cardiovascular diseases. We sought to explore the association of platelet counts with infarct size and outcome in patients presenting with acute ST-segment elevation MI (STEMI) treated with primary percutaneous coronary intervention (PPCI).</p><p><strong>Methods and results: </strong>In this retrospective study, we grouped 1,198 STEMI patients into tertiles (T) based on platelet count on admission: T1 = 102-206 [10⁹ platelets/L] (<i>n</i> = 402), T2 = 207-259 [10⁹ platelets/L] (<i>n</i> = 396), and T3 = 260-921 [10⁹ platelets/L] (<i>n</i> = 400). Primary endpoint was 1-year all-cause mortality. Patients with highest platelet counts on admission showed the greatest area at risk and infarct size: area at risk (median) was 22.0% (interquartile range [IQR]: 12.0-39.8%) in T1, 21.0% (IQR: 11.0-37.1%) in T2, and 26.0% (IQR: 14.9-45.0%) of the left ventricle in T3 (<i>p</i> = 0.003); final infarct sizes after 7 to 14 days were as follows: 10.0% (IQR: 2.0-21.0%) in T1, 9.0% (IQR: 2.0-20.7%) in T2, and 12.0% (IQR: 3.0-27.3%) of the left ventricle in T3 (<i>p</i> = 0.015) as serial imaging revealed. At 1 year, 16 all-cause deaths occurred in T1, 5 in T2, and 22 in T3 (log-rank test, <i>p</i> = 0.006). After adjustment, T1 and T3 were associated with all-cause 1-year mortality (T1: hazard ratio [HR] = 3.40, 95% confidence interval [CI] = 1.23-9.54, <i>p</i> = 0.02; T3: HR = 3.55, 95% CI = 1.23-9.78, <i>p</i> = 0.01) compared with T2. At 5 years, all-cause mortality remained numerically higher in the T1 and T3.</p><p><strong>Conclusions: </strong>In patients with STEMI undergoing PPCI, low and high blood platelet levels on admission were associated with increased long-term mortality (Fig. 1).</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"179-188"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142376342","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}

{"title":"Kinder mit venösen Thromboembolien: Übergewicht/Adipositas geht mit einem geringeren Bedarf an Antikoagulanzien einher.","authors":"","doi":"10.1055/a-2880-6157","DOIUrl":"https://doi.org/10.1055/a-2880-6157","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"46 3","pages":"160-161"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304075","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}