Hamostaseologie最新文献

{"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":"https://doi.org/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}

{"title":"Use of Vonicog Alpha and Acquired von Willebrand Syndrome, a New Approach: A Case Report.","authors":"Adeline Blandinières, Sophie Combe, Noémie Chanson, Olivier Lambotte, Cécile Lavenu-Bombled","doi":"10.1055/a-2266-7984","DOIUrl":"10.1055/a-2266-7984","url":null,"abstract":"<p><strong>Abstract: </strong>Therapeutic management of acquired von Willebrand syndrome (AVWS) can be challenging, particularly in cases of AVWS associated with monoclonal IgM such as Waldenström macroglobulinemia (WM) where several therapeutic options may be ineffective. Here, we describe the case of an 88-year-old patient who developed AVWS during follow-up for WM. The presence of a severe bleeding symptomatology not controlled by several therapies (plasma-derived von Willebrand factor, plasmapheresis) led us to introduce a supplementation with recombinant von Willebrand factor, vonicog α (Veyvondi, Takeda, Japan), starting at a dose of 50 IU/kg/d. This supplementation allowed clinical (no further bleeding) and biological (hemoglobin level, von Willebrand factor parameters) improvements. Because of the persistence of bleeding risk factors, the treatment was maintained at a prophylactic dose (20 UI/kg three times a week), without recurrence of bleeding events for a period of 9 months.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"111-114"},"PeriodicalIF":2.4,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190436","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 Diagnostic and Therapeutic Approaches in May-Thurner Syndrome in Children, Adolescents, and Young Adults: A Survey among Thrombosis Experts of the German Society of Thrombosis and Haemostasis.","authors":"Franziska Cuntz, Bernhard Gebauer, Andreas Greiner, Nikola Hagedorn, Madlen Reschke, Wolfgang Eberl, Barbara Zieger, Edelgard Lindhoff-Last, Susanne Holzhauer","doi":"10.1055/a-2282-4565","DOIUrl":"10.1055/a-2282-4565","url":null,"abstract":"<p><strong>Abstract: </strong>May-Thurner syndrome (MTS) is a pelvic venous disorder involving compression of the left common iliac vein by the right common iliac artery, which results in predisposition for deep vein thrombosis. Although MTS is increasingly recognized in young patients, specific guidelines on diagnosis and management for children, adolescents, and young adults do not exist so far. The aim of this study was to assess current diagnostic and therapeutic practice in Germany, Austria, and Switzerland in children and young adults with thrombosis and MTS.</p><p><strong>Abstract: </strong>We designed an online survey with 11 questions, which we sent via a mailing list to all members of the German, Austrian, and Swiss Society of Thrombosis and Haemostasis Research. Between July and October 2022, 33 specialists answered the questionnaire. Most participating specialists worked at pediatric hospitals (61%). Numbers of annually treated thromboses ranged from <5 (26%) to >30 (13%). Most specialists used venous ultrasound to diagnose deep vein thrombosis, 53% magnetic resonance imaging. Only 25% of specialists systematically screened for MTS in deep vein thrombosis. MTS was managed with anticoagulation (65%), iliac vein stent placement (32%), or balloon angioplasty (13%). In total, 31% of specialists reported to use more than one therapeutic method. Diagnostic and therapeutic approaches for MTS differed between specialists. Lack of standardization resulted in individualized and highly diverse management. Prospective observational clinical studies investigating the outcome of different management strategies including long-term follow-up on outcome and incidence of postthrombotic syndrome will help in defining patient groups who benefit most from revascularizing interventional strategies and developing standardized guidelines.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"127-135"},"PeriodicalIF":2.4,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460877","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":"Quantifying Residual Rivaroxaban Plasma Concentration after Antagonization with Andexanet Alfa: A Difficult Task in Routine Clinical Practice.","authors":"Alexander Mair, Gilles Huber, Jan-Dirk Studt, Donat R Spahn, Alexander Kaserer","doi":"10.1055/a-2266-8021","DOIUrl":"10.1055/a-2266-8021","url":null,"abstract":"<p><strong>Abstract: </strong>We describe the case of a 38-year-old man with a history of chronic portal vein thrombosis who presented with abdominal pain after a transjugular intrahepatic portosystemic shunt procedure. Under anticoagulation therapy with rivaroxaban, he experienced active splenic bleeding, leading to hemodynamic instability. Emergency interventions, including andexanet alfa and nanoparticle administration, successfully stopped the bleeding. However, routine tests showed persistently high rivaroxaban levels despite reversal with andexanet alfa. This case report shows that next to standard anti-Xa activity assay, high-performance liquid chromatography is as well unreliable in this regard. In contrast, viscoelastic tests might better serve as indicators of the efficacy of the reversal. The availability of modified anti-Xa tests is urgently needed, to monitor the effects of andexanet alfa reversal.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"106-110"},"PeriodicalIF":2.4,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102902","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":"Facial Hematoma: An Atypical Bleeding Site for Acquired Hemophilia.","authors":"Neeta Kesu Belani, Winnie Z Y Teo","doi":"10.1055/a-2276-4893","DOIUrl":"10.1055/a-2276-4893","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"115-116"},"PeriodicalIF":2.4,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395457","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 German Health Insurance Claims Data Fill Information Gaps in Rare Chronic Diseases: Use Case of Haemophilia A.","authors":"Vanessa Kratzer, Verena Rölz, Christoph Bidlingmaier, Robert Klamroth, Jochen Behringer, Anja Schramm, Ulrich Mansmann, Karin Berger","doi":"10.1055/a-2276-4871","DOIUrl":"10.1055/a-2276-4871","url":null,"abstract":"<p><strong>Abstract: </strong>Claims data are increasingly discussed to evaluate health care for rare diseases (resource consumption, outcomes and costs). Using haemophilia A (HA) as a use case, this analysis aimed to generate evidence for the aforementioned information using German Statutory Health Insurance (SHI) claims data. Claims data (2017-2019) from the German SHI 'AOK Bayern - Die Gesundheitskasse' were used. Patients with ICD-10-GM codes D66 and HA medication were included in descriptive analyses. Severity levels were categorized according to HA medication consumption. In total, 257 patients were identified: mild HA, 104 patients (mean age: 40.0 years; SD: 22.9); moderate HA, 17 patients, (51.2 years; SD: 24.5); severe HA, 128 patients, (34.2 years; SD: 18.5). There were eight patients categorized with inhibitors (37.8 years; SD: 29.6). Psychotherapy was reported among 28.8% (mild) to 32.8% (severe) of patients. Joint disease was documented for 46.2% (mild) to 61.7% (severe) of patients. Mean direct costs per patient per year were 1.34× for mild, 11× for moderate, 81× higher for severe HA patients and 223× higher for inhibitor patients than the mean annual expenditure per AOK Bayern insurant (2019). German SHI data provide comprehensive information. The patient burden in HA is significant with respect to joint disease and psychological stress regardless of the HA severity level. The cost of HA care for patients is high. Large cost ranges suggest that the individual situation of a patient must be considered when interpreting costs. The main limitation of SHI data analysis for HA was the lack of granularity of ICD codes.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"117-126"},"PeriodicalIF":2.4,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141478018","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":"Weniger Komplikationen und höhere Effizienz nach Umstellung VKA auf DOAK bei Älteren (COMBINE-AF-Substudie).","authors":"","doi":"10.1055/a-2825-4416","DOIUrl":"https://doi.org/10.1055/a-2825-4416","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"46 2","pages":"100"},"PeriodicalIF":2.4,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147789500","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}