Research and Practice in Thrombosis and Haemostasis最新文献

{"title":"Venous thromboembolism still leads on maternal death","authors":"Amelia Shard , Catherine Prodger , Sue Pavord","doi":"10.1016/j.rpth.2024.102675","DOIUrl":"10.1016/j.rpth.2024.102675","url":null,"abstract":"","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 1","pages":"Article 102675"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143155132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Challenges and considerations of genetic testing in von Willebrand disease","authors":"Omid Seidizadeh ,&nbsp;Luciano Baronciani ,&nbsp;Flora Peyvandi","doi":"10.1016/j.rpth.2025.102686","DOIUrl":"10.1016/j.rpth.2025.102686","url":null,"abstract":"<div><div>von Willebrand disease (VWD) is the most common inherited bleeding disorder characterized by defects in the quantity or function of the von Willebrand factor (VWF). The diagnosis of VWD is complex, requiring a battery of tests to evaluate the amount, functions, and multimeric structure of the VWF glycoprotein. The diagnosis can also be accomplished or confirmed by sequencing the VWF gene (<em>VWF</em>). Genetic testing of <em>VWF</em> has been around for 4 decades following the cloning of <em>VWF</em>, and nowadays, it has been integrated into the diagnostic panel of VWD. With the introduction of next-generation sequencing, genetic analysis of the <em>VWF</em> has become more practical than it was in the past, when Sanger sequencing was used. A number of laboratories have applied or started to use genetic testing with next-generation sequencing for VWD diagnosis. Considering the increasing application of genetic testing in VWD and the wide availability and decreasing cost of gene sequencing, we sought to discuss the challenges and considerations involved in applying genetic testing to VWD.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 1","pages":"Article 102686"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143155137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Functional Characterization of Venous Thromboembolic Disease (FUVID) study: rationale, design, and methods of a prospective, observational, multicenter study to evaluate mechanisms of exercise intolerance and dyspnea following pediatric pulmonary embolism","authors":"Ayesha Zia ,&nbsp;Michael D. Nelson ,&nbsp;Jimin Ren ,&nbsp;Song Zhang ,&nbsp;Robert F. Mattrey ,&nbsp;Brian L. Han ,&nbsp;Tarique Hussain ,&nbsp;Joshua S. Greer ,&nbsp;Manal Al-Qahtani ,&nbsp;Kendra Malone ,&nbsp;Sonja E. Stutzman ,&nbsp;Deseray V. Sida ,&nbsp;Sharon Primeaux ,&nbsp;Marcela D. Torres ,&nbsp;Clay T. Cohen ,&nbsp;Shelley Crary ,&nbsp;Jonathan Bernstein ,&nbsp;Hilary B. Whitworth ,&nbsp;Riten Kumar ,&nbsp;Kisha A. Beg ,&nbsp;Song Zhang PhD","doi":"10.1016/j.rpth.2024.102669","DOIUrl":"10.1016/j.rpth.2024.102669","url":null,"abstract":"<div><h3>Background</h3><div>To date, the focus of investigation in pediatric pulmonary embolism (PE) has been on PE recurrence and anticoagulant-related bleeding. While highly relevant, these outcomes do not fully capture functional limitations and the psychological impact that comprises post-PE syndrome.</div></div><div><h3>Objectives</h3><div>The primary objective of the Functional Characterization of Venous Thromboembolic Disease (FUVID) study was to investigate mechanisms of post-PE syndrome in children.</div></div><div><h3>Methods</h3><div>The ongoing FUVID study will prospectively enroll and systematically follow, over 12 months and with standardized pulmonary, cardiac, and muscle testing, a multicenter prospective cohort of 80 pediatric patients with first-episode PE without comorbidities. FUVID has 2 coprimary outcomes: exercise intolerance and exertional dyspnea. Exercise intolerance will be defined objectively as a percent predicted peak oxygen uptake based on ideal body weight or milliliters per minute per kilogram of lean body mass during cardiopulmonary exercise testing. Dyspnea will be objectively quantified using Borg questionnaires and defined as a mean difference of &gt;1 at the end of the warm-up and submaximal work rates during exercise testing, simulating conditions during daily life that induce dyspnea. Pertinent secondary outcomes include anxiety, depression, and quality of life.</div></div><div><h3>Conclusion</h3><div>The FUVID study will investigate the relationship between symptoms (exercise intolerance and exertional dyspnea) and multiple mechanisms—hemodynamic, ventilatory, or peripheral/muscle—within the same patient at rest, submaximal exercise (simulating activities of daily living), and maximal exercise using objective measures. It will provide new evidence for selecting patients for long-term follow-up, including psychological sequelae, after PE, the modalities this follow-up should include, and the findings interpreted as indicating functional limitations after PE.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 1","pages":"Article 102669"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143641706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Type of D-dimer assay determines the diagnostic yield of computed tomography in patients suspected for pulmonary embolism","authors":"Jorn L.J.C. Assmann ,&nbsp;Adriaan J. van Gammeren ,&nbsp;Reinier A. Sprenger ,&nbsp;Saskia de Wit ,&nbsp;Huib Ceelie ,&nbsp;Frank W.G. Leebeek ,&nbsp;Mark W.M. Schellings","doi":"10.1016/j.rpth.2024.102638","DOIUrl":"10.1016/j.rpth.2024.102638","url":null,"abstract":"<div><h3>Background</h3><div>Pulmonary embolism (PE) is a life-threatening condition with high morbidity and mortality. The diagnosis of PE is challenging due to nonspecific symptoms, making reliable diagnostic tools essential. This study addresses the clinical impact of interassay variability in D-dimer measurements on the utilization and diagnostic yield of computed tomography pulmonary angiography (CTPA).</div></div><div><h3>Objectives</h3><div>To investigate the effect of different D-dimer assays on the decision to perform CTPA and the subsequent diagnostic yield in patients with suspected PE.</div></div><div><h3>Methods</h3><div>This retrospective, multicenter cohort study analyzed data from 3 teaching hospitals in the southwest region of the Netherlands, covering the years 2018, 2019, 2022, and 2023. The study included data from 40,096 clinically requested D-dimer results and 11,372 CTPA records of patients with suspected PE. The D-dimer assays used were the Roche Tina-quant and Siemens INNOVANCE.</div></div><div><h3>Results</h3><div>The study found significant differences in CTPA utilization and diagnostic yield based on the D-dimer assay used. In 2018 to 2019, hospitals using the Roche Tina-quant assay ordered 21% fewer CTPA scans and had a 9% higher positivity rate compared with those using the Siemens INNOVANCE assay.</div></div><div><h3>Conclusion</h3><div>The findings highlight the necessity for assay-specific cutoff values or, ideally, the standardization of the D-dimer assay to optimize the accuracy and efficiency of PE diagnosis. This study demonstrates that the choice of D-dimer assay significantly influences the clinical management of suspected PE, affecting both the number of CTPA scans performed and the positivity rate of these scans. Implementing assay-specific cutoff values or standardization of the D-dimer assay could reduce unnecessary CTPA scans, minimize patient exposure to radiation, and lower healthcare costs. These results advocate enhanced collaboration between clinicians and laboratory specialists to accurately interpret D-dimer results within the context of the specific assay used. Future research should validate these findings in prospective studies and explore standardized protocols that account for interassay variability.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 1","pages":"Article 102638"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11731453/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in platelet maturity and reactivity following acute ST-segment elevation myocardial infarction","authors":"Oliver Buchhave Pedersen ,&nbsp;Peter H. Nissen ,&nbsp;Leonardo Pasalic ,&nbsp;Anne-Mette Hvas ,&nbsp;Steen Dalby Kristensen ,&nbsp;Erik Lerkevang Grove","doi":"10.1016/j.rpth.2024.102652","DOIUrl":"10.1016/j.rpth.2024.102652","url":null,"abstract":"<div><h3>Background</h3><div>Reduced effect of antiplatelet therapy has been reported in patients with ST-segment elevation myocardial infarction (STEMI). This could partly be explained by an increase of highly reactive immature platelets.</div></div><div><h3>Objectives</h3><div>To investigate changes in platelet maturity and reactivity after acute STEMI.</div></div><div><h3>Methods</h3><div>Patients diagnosed with STEMI, admitted for primary percutaneous coronary intervention, and treated according to international guidelines, were included. Blood samples were obtained within 24 hours after admission and at 2- to 3-months follow-up. Platelet maturity and reactivity using multicolor flow cytometry with SYTO-13 to categorize platelet maturity, whole blood platelet aggregation, serum thromboxane B2 levels, and standard immature platelet markers (eg, immature platelet count and fraction, and mean platelet volume) were measured.</div></div><div><h3>Results</h3><div>A total of 44 STEMI patients were included. The reactivity of immature platelets was consistently higher at baseline and at follow-up when compared to the entire platelet population and the mature platelet population (all <em>P</em> values &lt; .05). The expression of CD63 (a dense granule marker) in immature platelets was consistently high compared to the entire platelet population and the mature platelet population and did not change from baseline to follow-up (<em>P</em> values &gt; .24). Additionally, a positive significant correlation was found between standard immature platelet markers and the expression of CD63 on platelets both at baseline and follow-up (rho ranging from 0.32 to 0.62, all <em>P</em> values &lt; .05).</div></div><div><h3>Conclusion</h3><div>Immature platelets represent a highly reactive platelet subpopulation crucial for the overall platelet reactivity, partly due to a high expression of dense granules. Despite treatment with loading and maintenance doses of antiplatelet therapy, the reactivity of immature platelets remained high in STEMI patients.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 1","pages":"Article 102652"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11751529/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adeno-associated virus-based gene therapy for hemophilia–addressing the gaps","authors":"Wolfgang Miesbach ,&nbsp;Paul Batty ,&nbsp;Pratima Chowdary ,&nbsp;Sylvia Fong ,&nbsp;Radoslaw Kaczmarek ,&nbsp;Frank W.G. Leebeek ,&nbsp;Brian Long ,&nbsp;Johnny Mahlangu ,&nbsp;Mike Makris ,&nbsp;Glenn F. Pierce ,&nbsp;Steven W. Pipe ,&nbsp;Alok Srivastava ,&nbsp;Jan Voorberg ,&nbsp;Flora Peyvandi","doi":"10.1016/j.rpth.2024.102673","DOIUrl":"10.1016/j.rpth.2024.102673","url":null,"abstract":"<div><div>Adeno-associated virus-based gene therapy for hemophilia has emerged as a revolutionary treatment option, offering potential correction of clotting factor deficiency through a single intravenous infusion of functional genes directed to hepatocytes. With 3 gene therapies recently approved, this approach shows promise in transforming the lives of individuals with hemophilia. However, the complexity of gene therapy and the lack of standardization of methods in different components of this therapy can lead to unique challenges for clinical implementation. This manuscript follows literature reviews and structured discussions by the International Society on Thrombosis and Haemostasis Scientific and Standardization Committee Working Group on Gene Therapy that identified specific areas requiring standardization of methods, including viral vector production, liver function assessment, quantification of factor (F)VIII and FIX expression levels, assessment of antiadeno-associated viral antibodies, and genomic integration detection methods. Standardization strategies aim to achieve consistent vector quality, effective patient selection, and uniform assessment methods by implementing advanced laboratory techniques and standardized protocols. Standardizing these parameters is essential for improving the understanding of short-term and long-term safety and efficacy of gene therapy in hemophilia. This effort aims to enhance the predictability of individual responses, address variability in outcomes, and ultimately provide more effective, safer, and personalized treatment options for individuals with hemophilia.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 1","pages":"Article 102673"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11787635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recombinant factor VIIa: new insights into the mechanism of action through product innovation","authors":"Miguel A. Escobar ,&nbsp;Maureane Hoffman ,&nbsp;Giancarlo Castaman ,&nbsp;Cedric Hermans ,&nbsp;Johnny Mahlangu ,&nbsp;Johannes Oldenburg ,&nbsp;Charles L. Percy ,&nbsp;Mark T. Reding ,&nbsp;Amy D. Shapiro ,&nbsp;Steven W. Pipe","doi":"10.1016/j.rpth.2024.102670","DOIUrl":"10.1016/j.rpth.2024.102670","url":null,"abstract":"<div><div>Management of bleeding in persons with hemophilia and inhibitors involves treatment with bypassing agents, including recombinant activated factor VII (rFVIIa). Two rFVIIa products are commercially approved for use in the United States and the European Union. Eptacog alfa and eptacog beta share the same amino acid sequence but differ in posttranslational modifications. Although rFVIIa has been used to manage bleeding in persons with hemophilia and inhibitors for over 30 years, its mechanisms of action is still being studied. <em>In vitro</em> and <em>in vivo</em> studies have suggested that rFVIIa could promote hemostasis by (1) increasing tissue factor-dependent activation of factor (F)X (FX); (2) directly activating FX on the surface of activated platelets; and (3) downregulating protein C anticoagulant activity through binding to the endothelial protein C receptor (EPCR). Studies of rFVIIa and rFVIIa variants in murine models demonstrate that platelet-dependent activity is sufficient for hemostatic efficacy. Dosing levels required in clinical practice are most consistent with a platelet-dependent mechanism of action. However, <em>in vivo</em> models also suggest that pathways involving EPCR binding contribute to rFVIIa hemostatic activity. Eptacog beta displays increased platelet- and EPCR-dependent endothelial cell binding compared to eptacog alfa. Thus, the relative contribution of these mechanisms to the overall hemostatic efficacy of eptacog alfa and eptacog beta may differ. Further research is required to assess the clinical relevance of these differences. A better understanding of the mechanisms by which rFVIIa promotes hemostasis in patients will provide insights when evaluating clinical outcomes of safety and efficacy for innovative bypassing therapies.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 1","pages":"Article 102670"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143155135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A literature review of major surgery experience with emicizumab in people with hemophilia A without factor VIII inhibitors","authors":"Giancarlo Castaman ,&nbsp;Stacy E. Croteau ,&nbsp;Doris Quon ,&nbsp;Lucy Lee ,&nbsp;Letizia Polito ,&nbsp;Víctor Jiménez-Yuste","doi":"10.1016/j.rpth.2025.102693","DOIUrl":"10.1016/j.rpth.2025.102693","url":null,"abstract":"<div><div>People with hemophilia A have a total or partial deficiency of factor (F)VIII, causing spontaneous and/or traumatic bleeding into the joints, muscles, and soft tissues. Major surgery may be required to restore joint mobility or treat the symptoms of common comorbidities in people with hemophilia A. Additional factor replacement is recommended during the perioperative period; collated information on the experience of emicizumab-treated people with hemophilia A during major surgery is currently lacking. To provide a consolidated narrative summary of the experience with emicizumab in people with hemophilia A without FVIII inhibitors undergoing major surgery, a comprehensive literature search was performed using PubMed/MEDLINE (cut-off date: March 31, 2024); the abstract books for applicable congresses (2016–2024) were searched manually. Studies were included if reporting original data on people with hemophilia A of all ages and hemophilia A severities without FVIII inhibitors on emicizumab prophylaxis who had undergone major surgery. Outcomes collected included perioperative surgical management, adverse events, and bleeding events. Twenty publications were included; 72 procedures were reported. Twenty-two orthopedic and 34 other major procedures were specifically described. FVIII replacement was used to manage 66 procedures perioperatively, and 25 procedures were managed in conjunction with antifibrinolytics. Fifteen procedures resulted in a bleeding event, and one individual experienced a thrombotic event. No deaths were reported. This review provides a consolidated narrative of the currently reported experiences of emicizumab-treated people with hemophilia A without FVIII inhibitors undergoing major surgery, helping to support the future management decisions of emicizumab-treated people with hemophilia A during surgery.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 1","pages":"Article 102693"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143510037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contemporary approaches to treat people with hemophilia: what’s new and what’s not?","authors":"Leonard A. Valentino ,&nbsp;Maria E. Santaella ,&nbsp;Samantha A. Carlson ,&nbsp;Michael Recht","doi":"10.1016/j.rpth.2025.102696","DOIUrl":"10.1016/j.rpth.2025.102696","url":null,"abstract":"<div><div>The care of people with hemophilia with access to treatment has evolved over the past 70 years, with an average life expectancy like unaffected peers. For people with hemophilia living in low- and middle-income countries, the same is not true because of the lack of access to diagnosis and treatment. It is imperative to close gaps in care that exist throughout the world.</div><div>Here, we provide a narrative review of hemophilia and the treatments available to people with hemophilia A and B with the goal of achieving a hemophilia-free state. We aim to provide information on what is new and what gaps remain that preclude equitable outcomes for everyone with hemophilia.</div><div>Information on the current state of hemophilia care and outcomes, the products available for the treatment of people with hemophilia, comprehensive interdisciplinary care of people with hemophilia, and the remaining gaps in care for people with hemophilia were assembled by the authors using relevant literature.</div><div>Research must focus on preventing all bleeding, and new approaches to detect joint bleeding are needed. Training on and implementation of comprehensive interdisciplinary care is needed to elevate the standards of care in low- and middle-income countries. The development and introduction of improved factor replacement and nonfactor products, such as second-generation bispecific monoclonal antibodies and targeted inhibitors of the anticoagulant mechanisms along with genetic therapies, have the possibility of normalizing hemostasis and achieving health equity for people with hemophilia.</div><div>Improved outcomes and, ultimately, health equity, can only be realized if diagnosis, education, and care are accessible to everyone living with hemophilia worldwide.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 1","pages":"Article 102696"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143463569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The risk for psychiatric disorders in offspring from thrombosis-prone pedigrees in Sweden: a nationwide family study","authors":"Bengt Zöller,&nbsp;Jan Sundquist,&nbsp;Kristina Sundquist,&nbsp;Henrik Ohlsson","doi":"10.1016/j.rpth.2025.102692","DOIUrl":"10.1016/j.rpth.2025.102692","url":null,"abstract":"<div><h3>Background</h3><div>Psychiatric disorders have been associated with venous thromboembolism (VTE). However, to our knowledge, no nationwide study has examined the familial association between VTE and psychiatric disorders.</div></div><div><h3>Objectives</h3><div>We took a pedigree-based approach and examined the risk of psychiatric disorders in offspring from extended pedigrees according to the densities of VTE in pedigrees.</div></div><div><h3>Methods</h3><div>This was a Swedish national family study. We identified a total of 482,184 Swedish pedigrees from the Swedish Multigeneration Register containing a mean of 14.2 parents, aunts/uncles, grandparents, and cousins of a core full-sibship that we termed the pedigree offspring (<em>n</em> = 751,060). We then derived 8 empirical classes of these pedigrees based on the density of cases of VTE. The risk was determined in offspring for psychiatric disorders as a function of VTE density in their pedigrees. Diagnoses of VTE and psychiatric disorders (F00-F69) were determined according to the International Classification of Diseases codes in Swedish registers. All results were Bonferroni corrected.</div></div><div><h3>Results</h3><div>Higher VTE density, especially for females in pedigrees, was significantly but weakly associated in the offspring with a higher risk of psychiatric disorders. Moreover, VTE density in pedigrees was significantly associated in the offspring with substance abuse disorders, mood (affective) disorders, neurotic, stress-related, and somatoform disorders, behavioral syndromes associated with psychological disturbances and physical factors, personality disorders of adult personality and behavior, depression, and anxiety disorders.</div></div><div><h3>Conclusion</h3><div>Offspring of pedigrees with a high density of VTE, especially for females, are slightly disadvantaged regarding several psychiatric disorders. VTE shares familial susceptibility, albeit weak, with several psychiatric disorders.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 1","pages":"Article 102692"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143474290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}