Hamostaseologie最新文献

{"title":"Expanding Horizons in Thrombosis and Hemostasis: From Molecular Determinants to Real-World and Expert Opinion Evidence.","authors":"Manuela Albisetti, Heiko Rühl, Florian Langer","doi":"10.1055/a-2785-2138","DOIUrl":"https://doi.org/10.1055/a-2785-2138","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"46 3","pages":"157-158"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304110","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":"High Prevalence of F2 20210G > A in Splanchnic Vein Thrombosis and Cerebral Venous Sinus Thrombosis: A Retrospective Cohort Study of Patients with Thrombosis in Atypical Sites.","authors":"Dalia Khaddam, Hannah L McRae, Nadine Schwarz, Johannes Oldenburg, Bernd Pötzsch, Heiko Rühl, Sara Reda","doi":"10.1055/a-2329-1798","DOIUrl":"10.1055/a-2329-1798","url":null,"abstract":"<p><strong>Introduction: </strong>Atypical sites for thrombosis include deep vein thrombosis (DVT) of the upper extremity (UE-DVT), splanchnic vein thrombosis (SVT), and cerebral venous sinus thrombosis (CVST). In addition to specific pathogenic factors, their underlying mechanisms share similarities with typical venous thromboembolism (VTE), namely, DVT of the lower extremity and/or pulmonary embolism, but are less understood.</p><p><strong>Methods: </strong>Records of unselected patients with a history of typical VTE (<i>n</i> = 2,011), UE-DVT (<i>n</i> = 117), SVT (<i>n</i> = 83), and CVST (<i>n</i> = 82), who were referred to the Institute in Bonn for ambulatory thrombophilia testing, were retrospectively analyzed. Acquired and hereditary thrombosis risk factors were comparatively assessed.</p><p><strong>Results: </strong>UE-DVT was characterized by a high rate (50.4%) of site-specific acquired risk factors. Compared with typical VTE, SVT was more frequently associated with systemic inflammation, infection, or malignancy (2.2 vs. 12.0%, <i>p</i> = 3·10^-8) and the <i>JAK2</i> V617F mutation was present in 16.9%. In CVST compared with typical VTE, demographics and higher rates of oral contraception (43.2 vs. 57.6%, <i>p</i> = 0.011) and pregnancy (4.2 vs. 10.9%, <i>p</i> = 0.012) suggest a significant hormonal influence on etiology. While the prevalence of inhibitor deficiencies and factor V Leiden mutation did not differ between cohorts, the prevalence of <i>F2</i> 20210G > A was higher in SVT (15.7%, <i>p</i> = 0.003) and CVST (15.9%, <i>p</i> = 0.003) than in typical VTE (7.0%).</p><p><strong>Conclusion: </strong>The cohorts with thrombosis in atypical sites showed distinctive patterns of acquired risk factors. Further studies are warranted to provide additional mechanistic insight into the role of hormonal influence in CVST and the contribution of <i>F2</i> 20210G > A to the development of SVT and CVST.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"163-170"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460878","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":"Correlation between Platelet-to-Lymphocyte Ratio, Neutrophil-to-Lymphocyte Ratio and Burden of Thrombus with Disease Severity in Patients with Pulmonary Thromboembolism.","authors":"Ayshan Mammadova, Kübra Taşkaraca, Günel Jeyranova, Aysel Orujlu, Merve Tatlılıoğlu, Serra Duygulu, Zeynep Yalçınkaya, Seriyye Allahverdiyeva, Onur Gündoğdu, Atiye Cenay Karabörk Kılıç, Sevcihan Kesen Özbek, Gonca Erbaş, I Kıvılcım Oğuzülgen","doi":"10.1055/a-2506-6705","DOIUrl":"10.1055/a-2506-6705","url":null,"abstract":"<p><strong>Background: </strong>High neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) are markers of subclinical inflammation and have been associated with prognosis and mortality in many diseases. In this study, we evaluated the comparative value of NLR and PLR in identifying high mortality risk in patients hospitalized with acute pulmonary thromboembolism (PTE), and their relationship with the anatomical burden of thrombus.</p><p><strong>Methods: </strong>Patients who were followed up due to PTE were evaluated retrospectively. NLR and PLR were calculated from complete blood counts. The thrombus burden was assessed by the Qanadli score; based on the patients' archival computed tomography angiography images. Mortality prediction was based on an algorithm using the Pulmonary Embolism Severity Index, echocardiographic findings, and troponin levels.</p><p><strong>Results: </strong>Three hundred-two PTE patients were included in the study. Median NLR, PLR, and Qanadli score values were higher in nonsurvivors, with NLR (8.4 [2.2-18.9]) vs. (3.1 [0.4-13.1]), PLR (317 [87.6-525.3]) vs. (124.4 [30-476.3]), and Qanadli scores (21 [3-26]) vs. (9 [1-28]), respectively (<i>p</i> < 0.001). We showed that setting a threshold value of >4.45 for NLR and >151.59 for PLR significantly predicts the high mortality-risk group. In the receiver operating characteristic analysis, when the threshold value for the Qanadli score distinguishing between low-risk and high-risk disease was set at 15.5, the sensitivity was calculated as 98.8% and the specificity was 94.9% (<i>p</i> = 0.001).</p><p><strong>Conclusion: </strong>This study showed that NLR, PLR, and Qanadli scores can provide essential contributions to the clinician's determination of the anatomical burden of thrombus and disease severity in PTE patients.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"189-195"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143744466","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":"Expert Opinion for Defining a Severe Bleeding Phenotype to Guide Prophylaxis in Patients with Nonsevere Hemophilia.","authors":"Christian Pfrepper, Carmen Escuriola Ettingshausen, Robert Klamroth, Johannes Oldenburg, Martin Olivieri","doi":"10.1055/a-2411-7416","DOIUrl":"10.1055/a-2411-7416","url":null,"abstract":"<p><strong>Abstract: </strong>Prophylaxis is the standard of care for patients with severe hemophilia, patients with moderate hemophilia, or those with another congenital bleeding disorder that is associated with a severe bleeding phenotype and/or a high risk of spontaneous life-threatening bleeding. Patients with nonsevere hemophilia (factor VIII [FVIII] ≥ 1%) may also have a bleeding phenotype that requires prophylaxis. To date, however, there are no clear criteria as to when prophylaxis is indicated in these patients. Also, the term \"severe bleeding phenotype (SBPT)\" is neither included in the definitions of the International Society on Thrombosis and Haemostasis (ISTH) nor specified in the World Federation of Hemophilia (WFH) guidelines. Based on our personal experience and available evidence, we propose the criteria we use to define an SBPT and when we consider offering prophylaxis in patients with nonsevere hemophilia. Our proposals can be the basis for discussions in the community about the assessment of SBPT and the initiation of prophylaxis in patients with nonsevere hemophilia without inhibitors.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"206-214"},"PeriodicalIF":2.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142632588","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":"Dental Surgery without Clotting Factor Replacement Therapy during Continued Prophylaxis with Marstacimab, an Inhibitory TFPI Monoclonal Antibody.","authors":"Neele K Bokemeyer, Christina C Rolling, Marcus Freytag, Florian Langer","doi":"10.1055/a-2854-6184","DOIUrl":"https://doi.org/10.1055/a-2854-6184","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147990241","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":"Biomarkers as Diagnostic and Prognostic Tools for Hemophilic Arthropathy.","authors":"Lynn M Knowles, Lisa Laux, Jan Pilch","doi":"10.1055/a-2858-0048","DOIUrl":"https://doi.org/10.1055/a-2858-0048","url":null,"abstract":"<p><strong>Abstract: </strong>Repeated joint bleeds cause hemophilic arthropathy, which can develop despite regular prophylaxis with clotting factors. Therefore, recognizing ongoing or subclinical bleeds is an important element of assessing the therapeutic needs of patients with hemophilia. Joint bleeds lead to the remodeling of the synovia and subsequent osteochondral damage if bleeding persists or recurs. These processes can be demonstrated by biomarkers in the synovial fluid, blood, or urine, in addition to conventional imaging. Biomarkers that are upregulated in patients with hemophilia in the context of joint bleeds and synovitis are markers of fibrinolysis, inflammation and angiogenesis while markers of extracellular matrix degradation indicate osteochondral damage. Blood-induced inflammation and cartilage damage of the joint correlates with the release of iron-generated reactive oxygen species, IL-1β, and tumor necrosis factor α, which in turn induce the expression of IL-6 and C-reactive protein. Joint bleeds can also cause the release of the endothelial basement membrane markers C4M and Pro-C4 into the blood circulation. Upregulation of biomarkers of osteochondral damage, such as CTX-II, cartilage oligomeric matrix protein, and CS846, results from the dissolution of collagen type 2 and associated proteoglycans in the extracellular matrix of the cartilage. These biomarkers have been shown to indicate blood-induced inflammation, angiogenesis, and cartilage dysfunction but their capacity to predict critical milestones such as the transition to synovia hypertrophy or osteochondral damage needs to be assessed. Further research is necessary to resolve the natural history of hemophilic arthropathy and to provide patients with hemophilia with novel tools to predict disease and treatment outcomes.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147876697","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":"Can the Contact System be the Missing Link in Immune Checkpoint Inhibitors Associated Thromboinflammation?","authors":"Mustafa Vakur Bor, Ida Korfitz Meklenborg, Rasmus Søgaard Hansen, Christina H Ruhlmann, Yaseelan Palarasah","doi":"10.1055/a-2787-1820","DOIUrl":"https://doi.org/10.1055/a-2787-1820","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147846355","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":"An Unusual Association Between Acquired Hemophilia A and Type 2 Autoimmune Pancreatitis.","authors":"Michael Iarossi, Cuong An Do, Jean-Louis Frossard, Pierre Fontana, Alessandro Casini","doi":"10.1055/a-2829-7111","DOIUrl":"https://doi.org/10.1055/a-2829-7111","url":null,"abstract":"<p><strong>Abstract: </strong>Acquired hemophilia A (AHA) is a rare autoimmune bleeding disorder that can be triggered by underlying immune-mediated diseases. We report the case of a 63-year-old man who developed AHA 1 month after undergoing pancreaticoduodenectomy for a pseudotumoral lesion, which was histologically consistent with type 2 autoimmune pancreatitis (AIP). The patient presented with gastrointestinal bleeding, a markedly prolonged activated partial thromboplastin time, reduced factor VIII (FVIII) activity (3%), and a detectable FVIII inhibitor (1.4 Bethesda units/mL). Treatment with recombinant porcine FVIII and oral corticosteroids led to rapid control of bleeding, progressive inhibitor eradication, and complete remission, that has been maintained for 3 years. This case broadens the spectrum of autoimmune conditions associated with AHA and represents, to our knowledge, the first reported instance of AHA occurring in association with type 2 AIP.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147846398","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":"Navigating the Diagnostic and Clinical Spectrum of Thrombocytopenia and Thrombocytopathy: Lessons from a Case Series.","authors":"Hannah Glonnegger, Doris Boeckelmann, Rebekka Wiedenhoefer, Kristin Reichert, Cornelia Sattler, Behnaz Pezeshkpoor, Marco Spehl, Matthias Henschen, Barbara Zieger","doi":"10.1055/a-2859-1587","DOIUrl":"https://doi.org/10.1055/a-2859-1587","url":null,"abstract":"<p><strong>Abstract: </strong>BACKGROUND: Despite major advances in platelet function testing and molecular genetic diagnostics, the evaluation of inherited thrombocytopenia and thrombocytopathy remains challenging. Overlapping clinical phenotypes, variants of uncertain significance (VUS), and structural variants detectable only by complementary copy-number variant (CNV) analysis or array comparative genomic hybridization (CGH) frequently impede diagnostic classification.</p><p><strong>Abstract: </strong>METHODS: We report seven pediatric patients from five unrelated families, structured into two diagnostic parts. Part 1 addresses inherited platelet disorders evaluated using a standardized diagnostic algorithm including complete blood count, light transmission aggregometry (LTA), flow cytometry (FC)-based platelet phenotyping, and targeted next-generation sequencing (NGS) including CNV analysis. Part 2 focuses on disorders involving the von Willebrand factor (VWF) axis, assessed by the VWF antigen (VWF:Ag), VWF collagen binding activity (VWF:CBA), VWF multimer analysis, <i>ADAMTS13</i> activity and antigen, LTA, and molecular genetic testing.</p><p><strong>Abstract: </strong>RESULTS: Three diagnostically relevant constellations were identified. In Part 1, one patient with a classical Hermansky-Pudlak syndrome phenotype required CNV analysis to detect compound heterozygous pathogenic variants. Two siblings fulfilled diagnostic criteria for Glanzmann thrombasthenia based on LTA, FC, and genetic testing. A third patient showed a Glanzmann-like phenotype in LTA and FC but carried a homozygous VUS in <i>ITGA2B</i> combined with a heterozygous <i>ANKRD26</i> nonsense mutation. In Part 2, three additional patients demonstrated rare VWF-mediated mechanisms of thrombocytopenia due to <i>ADAMTS13</i> deficiency or von Willebrand disease type 2B.</p><p><strong>Abstract: </strong>CONCLUSIONS: This case series highlights the diagnostic complexity of pediatric platelet disorders and emphasizes the importance of a multimodal approach integrating functional platelet assays, NGS including CNV analysis, and careful clinical correlation.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147846373","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":"Current Indications for Thrombophilia Testing - A Modified Delphi Consensus Study in Switzerland.","authors":"Alessandra Bosch, Cosima Suter, Lukas Graf, Sabine Ruosch-Girsberger","doi":"10.1055/a-2858-0105","DOIUrl":"10.1055/a-2858-0105","url":null,"abstract":"<p><strong>Abstract: </strong>BACKGROUND: Thrombophilia is a hereditary or acquired condition associated with an increased risk of venous thromboembolism (VTE) and VTE recurrence. Existing recommendations on patient selection vary across guidelines, resulting in variability of testing practices. This heterogeneity reflects persistent uncertainty regarding appropriate testing strategies in routine care.</p><p><strong>Abstract: </strong>This modified Delphi survey was conducted to establish expert consensus on clinical indications for thrombophilia testing in Switzerland.</p><p><strong>Abstract: </strong>METHODS: A modified Delphi study was performed with clinical experts managing patients with VTE in Switzerland. A steering committee developed clinical scenarios and statements on thrombophilia testing. These were distributed to the expert panel who rated their agreement and provided written feedback in two rounds. Consensus was defined as ≥70% of experts rating a statement ≥5 on a 7-point Likert scale.</p><p><strong>Abstract: </strong>RESULTS: Forty-two clinical experts completed the survey. Consensus was reached after two rounds on 32 statements addressing indications for thrombophilia testing in various clinical scenarios, including unprovoked VTE, provoked VTE (including hormone-associated events), unusual site VTE, pediatric VTE, and patients without VTE. For example, consensus supported thrombophilia testing in patients aged <60 years with unprovoked VTE or unusual site VTE, and in women with hormone-associated VTE.</p><p><strong>Abstract: </strong>CONCLUSION: In this modified Delphi process, an expert panel achieved consensus on 32 statements regarding indications for thrombophilia testing in various clinical scenarios. These statements reflect current expert opinion, may help inform clinical decision-making, support consistent testing practices in routine care, and may inform the future development of evidence-based recommendations.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147823436","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}