Research and Practice in Thrombosis and Haemostasis最新文献

{"title":"Efficacy and safety of direct oral anticoagulants compared with warfarin in antiphospholipid syndrome. Results of a multicenter retrospective cohort study","authors":"Maha A.T. Elsebaie ,&nbsp;Zoe Wickham ,&nbsp;Stephanie DeBragga ,&nbsp;Stacey Fedewa ,&nbsp;Mohamed Amgad ,&nbsp;Jane Jungyoon Park ,&nbsp;Allen Li ,&nbsp;Ali Eshaghpour ,&nbsp;Juan Li ,&nbsp;Mark Crowther ,&nbsp;Manila Gaddh","doi":"10.1016/j.rpth.2025.102856","DOIUrl":"10.1016/j.rpth.2025.102856","url":null,"abstract":"<div><h3>Background</h3><div>Direct oral anticoagulants (DOACs) have become firstline treatment for many thrombotic conditions, but their use in antiphospholipid syndrome (APS) patients remains controversial.</div></div><div><h3>Objectives</h3><div>This multicenter, retrospective cohort study conducted at Emory and McMaster University Medical Centers aimed to explore pattern of DOAC use among APS patients and compare the efficacy and safety of DOACs vs warfarin.</div></div><div><h3>Methods</h3><div>We included APS patients aged ≥18 years who experienced acute thrombosis between 2012 and 2018 and initiated DOACs or warfarin. Clinical endpoints were recurrent thrombosis, clinically relevant bleeding, and a composite of thrombosis and bleeding (net clinical benefit). Cox proportional hazards models estimated hazard ratios (HRs) for the clinical endpoints and defined DOAC or warfarin exposure as time-varying to account for anticoagulant switching.</div></div><div><h3>Results</h3><div>A total of 152 patients were identified: 77 initiated treatment with warfarin and 75 with DOACs. Sixty patients switched anticoagulation therapy at least once. Twenty-four patients had triple-positive antiphospholipid antibodies anticoagulation class (DOAC vs warfarin) did not influence risk of recurrent thrombosis (HR, 0.91; 95% CI, 0.46-1.79) or net clinical benefit (HR, 0.81; 95% CI, 0.46-1.43). Conversely, DOACs were associated with 57% reduction in risk of clinically relevant bleeding (HR, 0.43; 95% CI, 0.20-0.95). The risk of recurrent venous or arterial thrombosis was comparable between DOAC and warfarin cohorts.</div></div><div><h3>Conclusion</h3><div>This study demonstrated comparable efficacy and improved safety of DOACs over warfarin in a predominantly lower-risk APS population. Caution is advised, particularly in APS patients with triple-positive antiphospholipid antibodies or history of arterial thrombosis.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 4","pages":"Article 102856"},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144070412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene-based therapies for hemophilia","authors":"Melissa F. Glasner ,&nbsp;Steven Pipe ,&nbsp;Wolfgang Miesbach","doi":"10.1016/j.rpth.2025.102870","DOIUrl":"10.1016/j.rpth.2025.102870","url":null,"abstract":"<div><div>Gene therapy is a transformative approach to treating genetic disorders in order to improve disease outcomes for patients. Hemophilia A and B are inherited genetic disorders caused by mutations in the <em>FVIII</em> and <em>FIX</em> genes, respectively. Traditional treatments for hemophilia have included intravenous plasma, factor concentrates, and nonfactor therapies that require lifelong prophylaxis and carry risks of factor inhibitor development. Gene therapy offers a novel solution by delivering functional <em>FVIII</em> or <em>FIX</em> genes via adeno-associated virus vectors, which enable the production of the missing factors. Clinical outcomes have shown promise through gene therapies like valoctocogene roxaparvovec for hemophilia A and etranacogene dezaparvovec and fidanacogene elaparvovec for hemophilia B. Each therapy has demonstrated efficacy in reducing bleeding rates and maintaining factor activity. However, challenges such as hepatotoxicity, immune response, and durability of gene expression persist. Future advancements aim to expand eligibility, achieve sustained expression, and minimize adverse effects. Current trials are exploring new vectors, transgenes, and methods to overcome existing limitations. Gene therapy holds the potential to revolutionize hemophilia treatment, offering a path toward long-term management and improved quality of life for patients.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 4","pages":"Article 102870"},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144070411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thrombotic risk determined by ABO, F8, and VWF variants in a population-based cohort study","authors":"Eric Manderstedt ,&nbsp;Christer Halldén ,&nbsp;Christina Lind-Halldén ,&nbsp;Johan Elf ,&nbsp;Peter J. Svensson ,&nbsp;Gunnar Engström ,&nbsp;Olle Melander ,&nbsp;Aris Baras ,&nbsp;Luca A. Lotta ,&nbsp;Bengt Zöller","doi":"10.1016/j.rpth.2025.102875","DOIUrl":"10.1016/j.rpth.2025.102875","url":null,"abstract":"<div><h3>Background</h3><div>Von Willebrand factor (VWF) and coagulation factor VIII (FVIII) plasma levels are associated with increased risk for venous thromboembolism (VTE).</div></div><div><h3>Objectives</h3><div>This study aimed to determine the thrombotic risk of rare and common variants of 27 genes linked to VWF or FVIII plasma levels in genome-wide association studies.</div></div><div><h3>Methods</h3><div>Exon sequences of 27 genes linked to plasma levels of VWF or FVIII in genome-wide association studies were analyzed for common and rare variants in 28,794 subjects without VTE (born during 1923-1950, 60% women), who participated in the Malmö Diet and Cancer study (1991-1996), with a follow-up time until 2018. Hazard ratios (HRs) were determined. <em>P</em> values were Bonferroni-corrected (<em>P</em> value = .05/27 &lt;.0019). Common variants were analyzed individually. Rare qualifying variants (&lt;0.1%) were collapsed.</div></div><div><h3>Results</h3><div>None of the 27 genes were associated with VTE in the rare variant collapsing analysis. Three common exon variants were significantly associated with VTE: rs8176719 (frameshift) in <em>ABO</em> (HR = 1.30; 95% CI, 1.20-1.42; <em>P</em> = 3.9 × 10⁻¹⁰), rs1800291 (p.Asp1260Glu) in <em>F8</em> (HR = 1.29; 95% CI, 1.08-1.55; <em>P</em> = .00046 for men; HR = 1.17; 95% CI, 1.06-1.29; <em>P</em> = .00019 for women), and rs1063856 (p.Thr789Ala) in <em>VWF</em> (HR = 1.10; 95% CI, 1.04-1.17; <em>P</em> = .00057). A risk score of these 3 variants was dose-dependently associated with VTE (5 risk alleles): HR = 2.8; 95% CI, 1.7-4.7; and <em>P</em> value = .00008. The area under the curve for VTE in receiver operating characteristics for the risk score was similar to FV Leiden (0.55 vs 0.54).</div></div><div><h3>Conclusion</h3><div>The risk score of 3 common variants in <em>VWF</em>, <em>F8</em>, and <em>AB0</em> genes is associated with VTE risk similar to FV Leiden.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 4","pages":"Article 102875"},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144068888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders","authors":"Veysel Gök ,&nbsp;Alper Ozcan ,&nbsp;Fatma Türkan Mutlu ,&nbsp;Ebru Yılmaz ,&nbsp;Deniz Kocak Göl ,&nbsp;Mustafa Ozay ,&nbsp;Baver Demir ,&nbsp;Hüseyin Taskiran ,&nbsp;Hasan Bas ,&nbsp;Mehmet Burak Mutlu ,&nbsp;Muhammet Ensar Dogan ,&nbsp;Atil Bisgin ,&nbsp;Ido Somekh ,&nbsp;Meino Rohlfs ,&nbsp;Munis Dundar ,&nbsp;Yusuf Ozkul ,&nbsp;Christoph Klein ,&nbsp;Musa Karakukcu ,&nbsp;Ekrem Unal","doi":"10.1016/j.rpth.2025.102873","DOIUrl":"10.1016/j.rpth.2025.102873","url":null,"abstract":"<div><h3>Background</h3><div>Inherited platelet disorders (IPDs) are characterized by thrombocytopenia, platelet dysfunction, or both, leading to recurrent bleeding and diagnostic challenges. Advances in genetic testing have significantly improved early and accurate diagnoses.</div></div><div><h3>Objectives</h3><div>This study aimed to evaluate the clinical and genetic spectrum of IPDs, identify diagnostic challenges, and assess outcomes of therapeutic interventions.</div></div><div><h3>Methods</h3><div>We conducted a retrospective cohort study of 50 IPD patients. We performed clinical evaluations, peripheral smear analyses, and genetic testing to identify causative variants. Correlation between platelet counts, bleeding severity, and the effectiveness of treatments, such as hematopoietic stem cell transplantation and thrombopoietin receptor agonists, was analyzed.</div></div><div><h3>Results</h3><div>A total of 54.5% of cases showed autosomal dominant inheritance. Diagnostic delays were common, with many patients initially misdiagnosed as having immune thrombocytopenic purpura (ITP). There was a moderate, negative, statistically significant correlation between platelet counts and bleeding severity. Peripheral smear findings, such as stomatocytosis and macrothrombocytopenia, provided critical diagnostic clues. We identified novel mutations in <em>GP1BA</em>, <em>ITGB3</em>, <em>NBEAL2</em>, <em>WAS</em>, and <em>MPL</em> genes, which expanded our understanding of IPDs. Different treatment modalities were used. Hematopoietic stem cell transplantation was performed in severe systemic cases, such as Wiskott–Aldrich syndrome. Sitosterolemia was treated with ezetimibe. Thrombopoietin receptor agonists reduced bleeding in some patients.</div></div><div><h3>Conclusion</h3><div>Integrating genetic, clinical, and laboratory findings is essential in providing accurate diagnoses and management of IPDs. Early genetic diagnosis and personalized therapeutic strategies improve outcomes. Future research should focus on functional studies of novel mutations and refining treatment protocols to enhance care for this complex population.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 4","pages":"Article 102873"},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144068887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Post–below-knee amputation venous thromboembolism and mortality in United States veterans","authors":"Khanh P. Nguyen ,&nbsp;Joshua B. Gruber ,&nbsp;Megan L. Mertzel ,&nbsp;Cecelia Madison ,&nbsp;Reid Thompson ,&nbsp;Kenneth Gundle ,&nbsp;Scott Damrauer ,&nbsp;Kristen M. Sanfilippo","doi":"10.1016/j.rpth.2025.102855","DOIUrl":"10.1016/j.rpth.2025.102855","url":null,"abstract":"<div><h3>Background</h3><div>Patients who undergo below-knee surgical amputation (BKA) are at risk of postoperative venous thromboembolism (VTE). Limited prior studies quantified the rate of VTE post-BKA or the association of VTE with survival in this population.</div></div><div><h3>Objectives</h3><div>We aimed to assess the incidence of post-BKA VTE and the association with all-cause mortality in a cohort of United States veterans.</div></div><div><h3>Methods</h3><div>This was a retrospective cohort study of veterans who underwent surgical BKA between October 2016 and January 2023. We identified VTE within 90 days post-BKA using a previously validated algorithm combining International Classification of Diseases codes with a new anticoagulant prescription, placement of an inferior vena cava filter, or death within 30 days. A time-dependent Cox proportional hazard model tested the association between VTE and death while adjusting for potential confounders. A sensitivity analysis removed individuals categorized as having an acute VTE based on the International Classification of Diseases for VTE plus death within 30 days.</div></div><div><h3>Results</h3><div>A total of 6305 patients underwent a first-time surgical BKA. Of these, 132 experienced a VTE within 90 days post-BKA. Younger age was associated with a reduced risk of post-BKA VTE. After adjusting for confounders, VTE within 90 days of BKA was associated with a 3-fold increase in mortality (adjusted hazard ratio, 3.17, 95% CI, 2.12-4.17).</div></div><div><h3>Conclusion</h3><div>Patients who had a VTE within 90 days of BKA had a higher mortality than those without VTE post-BKA. Future studies are warranted to confirm these findings and investigate strategies to prevent post-BKA VTE.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 4","pages":"Article 102855"},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144070410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Joint health status in patients with moderate hemophilia A: a cross-sectional multi-center study","authors":"Ilenia Calcaterra ,&nbsp;Federico Picasso ,&nbsp;Federica Valeri ,&nbsp;Erminia Baldacci ,&nbsp;Mariasanta Napolitano ,&nbsp;Cornelia Guerrino ,&nbsp;Ezio Zanon ,&nbsp;Cristina Santoro ,&nbsp;Sergio Siragusa ,&nbsp;Carlo Martinoli ,&nbsp;Matteo Nicola Dario Di Minno","doi":"10.1016/j.rpth.2025.102737","DOIUrl":"10.1016/j.rpth.2025.102737","url":null,"abstract":"<div><h3>Background</h3><div>The prevalence of arthropathy in patients with moderate hemophilia A (mHA) is highly variable. People with mHA are often under-treated, and this may lead to joint damage and worsen quality of life. The aim of the present study was to evaluate joint status in mHA by means of point-of-care ultrasound (PoC-US) and clinical examination.</div></div><div><h3>Methods</h3><div>Consecutive mHA patients receiving on-demand replacement treatment underwent a clinical examination of joint status according to HJHS protocol. On the same day, all patients underwent a PoC-US assessment according to the HEAD-US protocol.</div></div><div><h3>Results</h3><div>A total of 51 subjects were included. The median HJHS score was 2.0(IQR:0-3.0). A 0-1 HJHS score was found in 23 mHA patients (45.1%), between 2 and 3 in 17 (33.3%) and &gt;3 in 11 (21.6%). The median HEAD-US score was 2.0(IQR:1-7) and a statistically significant correlation between HJHS and HEAD-US was found (rho=0.732, p&lt;0.001). Osteochondral damage was found in 21.6% patients, hypertrophic synovium (HS) was found in 29.4%. Among those reporting a 0-1 HJHS score, 13.0% showed HS. The analysis at joint level showed that the most commonly affected joint was the ankle, both for osteochondral damage and for the presence of hypertrophic synovium.</div></div><div><h3>Conclusion</h3><div>Our study suggests that the prevalence of arthropathy changes in patients with mHA receiving on-demand treatment is not negligible and that PoC-US is able to detect osteochondral damage as well as HS in this clinical setting. A more extensive screening of the joint status could be useful to tailor treatment and improve outcome in mHA.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 2","pages":"Article 102737"},"PeriodicalIF":3.4,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143777615","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":"Clinical utility of panel-based genetic sequencing for von Willebrand disease","authors":"Radha Ramanan ,&nbsp;Christine Van Laer ,&nbsp;Sarissa Baert ,&nbsp;Cyrielle Kint ,&nbsp;Chris Van Geet ,&nbsp;Quentin Van Thillo ,&nbsp;Peter Verhamme ,&nbsp;Thomas Vanassche ,&nbsp;James D. McFadyen ,&nbsp;Andrew C. Perkins ,&nbsp;Huyen A. Tran ,&nbsp;Veerle Labarque ,&nbsp;Kathleen Freson","doi":"10.1016/j.rpth.2025.102730","DOIUrl":"10.1016/j.rpth.2025.102730","url":null,"abstract":"<div><h3>Introduction</h3><div>Von Willebrand disease (VWD) is the most prevalent inherited bleeding disorder with a wide spectrum of causative variants. Next-generation sequencing (NGS) analyses the entire <em>VWF</em> gene and provides concomitant assessment of other genes allowing differentiation between genocopies.</div></div><div><h3>Methods</h3><div>We conducted a single-centre retrospective study of all patients with confirmed or suspected VWD who were screened with panel-based whole-exome sequencing (WES) for inherited bleeding disorders. Pre-sequencing diagnosis was performed using laboratory measures of VWF activity and quantity. Post-sequencing diagnosis was informed by variant curation in combination with laboratory measures. We measured clinically meaningful changes in the pre- vs post-genetic sequencing diagnosis and subtyping.</div></div><div><h3>Results</h3><div>The study included 108 patients. The population was predominantly composed of paediatric patients &lt; 18 years old (77/108, 71%) and females (66/108, 61%). The largest pre-sequencing subgroup was those with low VWF (n=61, 56%), followed by type 1 VWD (n=21, 19%) and type 2 not otherwise specified (NOS) (n=18, 17%). A clinically meaningful change in management occurred in 19% (20/108) of the study population. The largest effect was seen in the pre-sequencing type 2 group (67%, 16/24). In the type 2 group who could not be accurately subtyped into 2A/B/M/N prior to sequencing (type 2 NOS), 15/18 (83%) were able to be subtyped or given a different diagnosis post sequencing.</div></div><div><h3>Conclusion</h3><div>Panel-based sequencing for VWD in a well-selected cohort, particularly those with type 2 and type 3 VWD, was clinically relevant in differentiating genocopies, directing therapies and family planning. Sequencing in those with low VWF and type 1 VWD rarely changed management.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 2","pages":"Article 102730"},"PeriodicalIF":3.4,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143777603","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":"Platelet response following dexamethasone in obese vs nonobese patients with primary, acute immune-mediated thrombocytopenia","authors":"Tyler Everhardt ,&nbsp;Kelley Julian ,&nbsp;Russell Benefield ,&nbsp;Aaron Wilson ,&nbsp;Nathan Wilson ,&nbsp;Charles J. Parker ,&nbsp;Anna Parks ,&nbsp;Jeffrey A. Gilreath","doi":"10.1016/j.rpth.2025.102844","DOIUrl":"10.1016/j.rpth.2025.102844","url":null,"abstract":"<div><h3>Background</h3><div>Immune thrombocytopenia (ITP) is a rare autoimmune disorder defined as a platelet count &lt;100,000/μL, where secondary causes of thrombocytopenia have been excluded. Glucocorticoids are firstline therapy for ITP; however, data and recommendations on the impact of body weight and repeat steroid courses remain limited.</div></div><div><h3>Objectives</h3><div>We aimed to evaluate if body weight altered the response rates to dexamethasone (DEX) in the treatment of ITP.</div></div><div><h3>Methods</h3><div>We conducted a retrospective review to evaluate the effects of body weight on response to DEX in ITP. Patients were compared based on body mass index, presentation of ITP (acute or chronic), and cause of ITP (primary or secondary). Initial response, complete response, and relapse rates were among the outcomes investigated among the primary acute ITP population.</div></div><div><h3>Results</h3><div>Overall, 117 patients with ITP were identified, 49 of whom had primary acute ITP. Of these, 28 were categorized as nonobese, while 21 were obese. Nonobese patients were more likely to experience an initial platelet response to DEX than obese patients (93% vs 71%; <em>P</em> = .04), with 68% of nonobese patients also demonstrating a complete response compared with 48% of obese patients. Among patients who did not respond after 1 course of DEX, only 2 patients received another course prior to the initiation of alternative therapies. This is the second study to show that obese patients with primary acute ITP have significantly lower initial response rates and lower complete response rates to DEX compared with nonobese patients and that repeat DEX courses may be underutilized across all body mass index subgroups.</div></div><div><h3>Conclusion</h3><div>This study further highlights the need for additional data and guidance on optimal glucocorticoid dosing, especially in patients with obesity.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 3","pages":"Article 102844"},"PeriodicalIF":3.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143854431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-dose postpartum thromboprophylaxis in women at high risk of pregnancy-related venous thromboembolism: a single-center prospective cohort study","authors":"Sean C.S. Rivrud ,&nbsp;Èmese R.H. Heijkoop ,&nbsp;Marloes A.G. Holswilder–Olde Scholtenhuis ,&nbsp;Karina Meijer","doi":"10.1016/j.rpth.2025.102846","DOIUrl":"10.1016/j.rpth.2025.102846","url":null,"abstract":"<div><h3>Background</h3><div>Pregnancy-related venous thromboembolism (VTE) is a major cause of maternal mortality and morbidity. While thromboprophylaxis can reduce the incidence of VTE, it may increase the risk of bleeding. Current guidelines recommend assessing VTE risk in pregnant women and administering low-molecular-weight heparin (LMWH) thromboprophylaxis to those at high risk. However, there is a paucity of evidence regarding the optimal dosing of postpartum LMWH thromboprophylaxis.</div></div><div><h3>Objectives</h3><div>To evaluate the safety and efficacy of fixed low-dose LMWH antepartum and weight-based high-dose LMWH (equivalent to weight-based therapeutic-dose LMWH) until 6 weeks postpartum in a prospective cohort of women at high risk for pregnancy-related VTE.</div></div><div><h3>Methods</h3><div>From December 8, 2014, to November 9, 2023, we included patients at high risk for pregnancy-related VTE who required thromboprophylaxis during pregnancy and the puerperium. The primary safety outcome was the incidence of primary and secondary major postpartum hemorrhage. The secondary safety outcome was the incidence of primary and secondary postpartum clinically relevant nonmajor bleeding (CRNMB). The efficacy outcome was the incidence of VTE. Additional outcomes included treatment discontinuation and treatment modification.</div></div><div><h3>Results</h3><div>We found a 6.56% incidence of primary major postpartum hemorrhage, a 9.84% incidence of primary postpartum CRNMB, a 5.00% incidence of secondary postpartum CRNMB, a 3.33% incidence of VTE, a 16.1% incidence of treatment discontinuation, and a 30.6% incidence of treatment modification.</div></div><div><h3>Conclusion</h3><div>When evaluating the optimal dose of thromboprophylaxis, the acceptable residual risk of VTE is debatable but should be considered in conjunction with the risks of adverse events, particularly bleeding and drug reactions, such as hypersensitivity skin reactions.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 3","pages":"Article 102846"},"PeriodicalIF":3.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143882320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and factors associated with high-risk thrombophilia: a single-center cross-sectional study of 3550 patients at a tertiary Thrombosis Centre in Switzerland","authors":"Shabnam Najaf Zadeh ,&nbsp;Fabienne Schmidli ,&nbsp;Katarzyna Aleksandra Jalowiec ,&nbsp;Tobias Tritschler ,&nbsp;Yan Xu ,&nbsp;Alan Haynes ,&nbsp;Grégoire Le Gal ,&nbsp;Anne Angelillo-Scherrer ,&nbsp;Kristina Vrotniakaite-Bajerciene","doi":"10.1016/j.rpth.2025.102864","DOIUrl":"10.1016/j.rpth.2025.102864","url":null,"abstract":"<div><h3>Background</h3><div>Thrombophilia testing remains controversial, with no standardized recommendations across patient populations.</div></div><div><h3>Objectives</h3><div>Given the clinical significance of high-risk thrombophilia (homozygous factor V Leiden or prothrombin G20210A mutations, natural anticoagulant deficiencies, and antiphospholipid antibody syndrome [APS]), we aimed to determine its prevalence and the clinical and laboratory factors associated with its diagnosis across diverse patient populations.</div></div><div><h3>Methods</h3><div>We conducted a single-center cross-sectional study of 3550 patients tested for thrombophilia at a tertiary thrombosis clinic between 2010 and 2020. Analyses were performed in the entire cohort and by referral indication. Univariate logistic regression was used to calculate the effect measures between clinical and laboratory characteristics of referred patients and high-risk thrombophilia.</div></div><div><h3>Results</h3><div>High-risk hereditary thrombophilia and APS were found in 155 (8%) and 67 (3%) tested patients with venous thromboembolism (VTE), in 25 (7%) and 40 (7%) tested patients with unexplained arterial thrombosis, and in 18 (17.2%) and 12 (11%) tested women with pregnancy-related morbidity, respectively. The prevalence of high-risk hereditary thrombophilia and APS was comparable in patients with unprovoked and major risk factor-provoked VTE (5.2% vs 8.2%, <em>P</em> = .1; 3.5% vs 2.8%, <em>P</em> = .9, respectively). A total of 37 (12%) of the tested asymptomatic family members had hereditary high-risk thrombophilia. Patients aged &lt;50 years with VTE, a family history of VTE in a first-degree relative, no comorbidities, and D-dimer &gt; 500 μg/L at the time of thrombophilia testing were more likely to have high-risk hereditary thrombophilia.</div></div><div><h3>Conclusion</h3><div>High-risk thrombophilia was mostly prevalent in women with pregnancy-related morbidity. The prevalence of thrombophilia in patients with VTE was comparable, irrespective of VTE risk factors. Several clinical characteristics were associated with high-risk hereditary thrombophilia in patients with VTE.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 3","pages":"Article 102864"},"PeriodicalIF":3.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143918244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}