Thrombosis Journal最新文献

{"title":"Two decades of prenatal diagnosis in hemophilia A and B: a systematic review of global trends and current practices.","authors":"Seyed Mehrab Safdari, Mehdi Bakhtiyaridovvombaigi, Fatemeh Damerchiloo, Akram Sadat Jaafarian, Fateme Amiri Samani, Majid Safa, Shadi Tabibian","doi":"10.1186/s12959-026-00847-8","DOIUrl":"10.1186/s12959-026-00847-8","url":null,"abstract":"<p><p>BACKGROUND: Hemophilia A and B are severe X-linked bleeding disorders caused by variants in the F8 and F9 genes, respectively. Over the past two decades, prenatal diagnosis (PND) has become an essential component of hemophilia management, yet global practices remain heterogeneous. This study aimed to analyze worldwide trends, methodologies, and outcomes of PND for hemophilia A and B, highlighting advances, disparities, and future needs. MAIN BODY: Following PRISMA guidelines, PubMed, Scopus, Embase, and Web of Science were searched for relevant publications between January 2005 and September 2025. Twenty-four eligible studies encompassing 969 pregnancies were included. Among them, 78.3% (n = 759) were hemophilia A carriers and 16.3% (n = 158) hemophilia B carriers. Amniocentesis (45.8%) and chorionic villus sampling (41.6%) were the most frequently applied techniques, while non-invasive cell-free DNA testing was reported in 20.8% of studies as an emerging alternative. Direct sequencing and PCR-based assays were each used in 45.8% of cases, followed by linkage analysis in 33.3%. Out of 423 fetuses analyzed, 318 (~ 75%) were affected, including 245 (~ 58%) with hemophilia A, 47 (~ 11%) with hemophilia B, and for 26 (6%) the specific type of hemophilia was not reported. Pregnancy outcomes were reported in 10 studies: 45 (14%) affected pregnancies were terminated, 15 (4.7%) were continued to term, and data were unavailable for 81% of cases. Most publications originated from China (n = 8; 33.3%), Italy (n = 5; 20.8%), and India (n = 3; 12.5%), underscoring global disparities in access and reporting. Over time, a clear transition from linkage analysis to molecular sequencing was observed, alongside the early adoption of next-generation and digital PCR techniques. CONCLUSIONS: This study reveals remarkable progress in molecular diagnostics that has substantially improved PND accuracy for hemophilia. However, regional inequities, limited reporting of pregnancy outcomes, and restricted access to advanced technologies persist. Establishing harmonized international guidelines, expanding non-invasive testing validation, and promoting equitable access to genetic services are crucial steps to ensure that future PND practices support informed reproductive decisions and global health equity. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"24 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12937542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147310264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multifactorial thrombotic risk in Evans syndrome: a case report and review of the literature.","authors":"Hande Nur Erolmez, Semih Eker, Fakiha Siddiqui, Ayse Nilgun Kul, Gulbuz Sezgin, Jawed Fareed, Bulent Kantarcioglu","doi":"10.1186/s12959-026-00846-9","DOIUrl":"10.1186/s12959-026-00846-9","url":null,"abstract":"<p><p>BACKGROUND: Evans syndrome (ES) is a rare autoimmune disorder characterized by the coexistence of immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AIHA). Beyond bleeding and infections complications, ES is increasingly recognized as a prothrombotic condition, particularly in the presence of multiple risk factors such as hemolysis, thrombocytopenia-related immune dysregulation, splenectomy, and exposure to thrombopoietin receptor agonists. However, the importance of antiphospholipid antibodies is less well established in ES patients. CASE PRESENTATION: We report the case of a 53-year-old male with a long-standing history of AIHA, later complicated by ITP and diagnosed as ES, who presented with acute deep vein thrombosis of the right lower extremity despite severe thrombocytopenia. His medical history was notable for prior splenectomy, recurrent venous thromboembolic events, cerebral venous sinus thrombosis, and recent exposure to eltrombopag. Laboratory evaluation revealed evidence of compensated hemolysis and persistent lupus anticoagulant positivity, while other antiphospholipid antibodies were negative. Due to profound thrombocytopenia, anticoagulation was initiated following platelet count recovery achieved with intravenous immunoglobulin and corticosteroids. Platelet counts were subsequently maintained with eltrombopag, allowing continuation of therapeutic anticoagulation without bleeding complications. CONCLUSIONS: This case highlights the complex interplay between thrombosis and thrombocytopenia in ES. Rather than a single etiologic factor, thrombotic events in ES appear to result from the accumulation of multiple prothrombotic conditions, including immune cytopenias, prior splenectomy, and treatment-related factors, with antiphospholipid antibodies potentially acting as an additional risk amplifier. Recognition of this multifactorial risk profile is essential for tailored management and prevention of thrombotic complications in patients with ES. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13040922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147285261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lupus anticoagulant hypoprothrombinemia syndrome successfully treated with rituximab - case report.","authors":"Michael Iarossi, Angelo Rizzolo, Michèle Stanciu, Valérie Leclair, Marc Blostein, Maral Koolianl","doi":"10.1186/s12959-026-00832-1","DOIUrl":"10.1186/s12959-026-00832-1","url":null,"abstract":"<p><p>Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is a rare, acquired coagulation disorder where antiphospholipid antibodies (aPL) target prothrombin. LAHPS should be suspected in patients with aPL presenting with bleeding rather than thrombotic events or prolonged prothrombin time. Prompt assessment of factor II levels is crucial to prevent life-threatening hemorrhage. Given its rarity, there is currently no established treatment guidelines. Management of bleeding episodes involves transfusion of fresh frozen plasma or prothrombin complex concentrate (PPC), activated factor concentrates such as FEIBA or recombinant factor VIIa could be considered if initial interventions fail. Concurrent immunosuppressive therapy is essential to suppress pathogenic anti-prothrombine antibodies, with corticosteroids typically serving as first-line treatment, either alone or in combination with other immunosuppressive agents. Here, we present a case of a newly diagnosed LAHPS in a patient with active systemic lupus erythematosus who was successively treated with PCCs and immunosuppression with corticosteroids and rituximab.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13040966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147285215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sepsis induced coagulopathy (SIC): is it monolithic?","authors":"Lu Wang, Xiang Zhou","doi":"10.1186/s12959-026-00845-w","DOIUrl":"10.1186/s12959-026-00845-w","url":null,"abstract":"<p><p>INTRODUCTION: Sepsis-induced coagulopathy (SIC) is known to be linked with an increased mortality of sepsis. METHODS: We designed this study to investigate whether there is heterogeneity in the clinical manifestations of SIC between cases with international normalized ratio (INR) as the dominant factor and those with platelet (PLT) as the dominant factor. In this survey, 1421 SIC patients admitted to Peking Union Medical College Hospital were enrolled. External verification was conducted using data from 4732 SIC patients in the Medical Information Mart for Intensive Care IV (MIMIC-IV) database. According to the difference of INR and PLT, SIC was divided into four subtypes: SIC-severe (PLT < 100 and INR > 1.4), SIC-INR (PLT ≥ 100 and INR > 1.4), SIC-PLT (PLT < 100 and INR ≤ 1.4), and SIC-mild (100 ≤ PLT < 150 and 1.2 < INR ≤ 1.4). MAIN RESULTS: The incidence of SIC in sepsis patients was 48.70% (1421/2918). Compared with the SIC-INR group, the SIC-PLT group had shorter activated partial thromboplastin time, lower fibrinogen levels, lower lactate levels, and lower blood glucose levels (P < 0.05). Regarding liver function, compared to the SIC-INR group, the SIC-PLT group exhibited lower levels of total bilirubin, direct bilirubin, and alanine aminotransferase (P < 0.05). Concerning kidney function, the proportion of patients receiving continuous renal replacement therapy support in the SIC-PLT group was lower than that in the SIC-INR group (P < 0.05). There was no statistically significant difference in SOFA total score between the SIC-INR group and the SIC-PLT group after deducting the coagulation system score. In terms of outcomes, there were no statistically differences in costs and mortality between the SIC-INR and the SIC-PLT group, but the SIC-PLT group had shorter duration of mechanical ventilation and hospital stays after diagnosis of sepsis than the SIC-INR group (P < 0.05). Data from the MIMIC-IV database further corroborate there was heterogeneity between the SIC-INR group and the SIC-PLT group. The incidence rate of DVT in the SIC-PLT group was significantly lower than that in the SIC-INR group (P < 0.05). CONCLUSIONS: SIC with PLT change as the dominant factor and SIC with INR change as the dominant factor exhibited significant heterogeneity. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13032678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146776626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationships between disseminated intravascular coagulation and time series change of Von Willebrand factor in patients with out-of-hospital cardiac arrest: a retrospective observational study.","authors":"Yuki Itagaki, Yuki Chiba, Misako Suzuki, Mariko Hayamizu, Hisanori Horiuchi, Mineji Hayakawa","doi":"10.1186/s12959-026-00842-z","DOIUrl":"10.1186/s12959-026-00842-z","url":null,"abstract":"<p><p>BACKGROUND: Out-of-hospital cardiac arrest (OHCA) is frequently complicated by disseminated intravascular coagulation (DIC), which worsens outcomes. Von Willebrand factor (VWF) is central to haemostasis, and its multimeric size and activity are regulated by ADAMTS13. Decreased ADAMTS13 activity leads to accumulation of ultralarge VWF multimers and microvascular thrombosis. After OHCA, elevated VWF antigen (VWF Ag) and reduced ADAMTS13 activity have been observed and correlate with poor outcomes. However, the relationships among VWF activity, multimer size, and ADAMTS13 activity in DIC after OHCA remain unclear. METHODS: This single-centre retrospective study included adult patients with witnessed cardiogenic OHCA admitted to the Hokkaido University Hospital between September 2019 and January 2023. Patients receiving extracorporeal membrane oxygenation were excluded. Plasma samples collected from Day 0 (upon arrival at the emergency department) to Day 4 were analysed for VWF Ag, VWF ristocetin cofactor activity (VWF RCo), VWF large multimer index (VWF LMI), and ADAMTS13 activity. Patients were classified into the DIC and the non-DIC groups. Temporal changes in these biomarkers were compared between the two groups, and their associations with DIC scores were assessed. RESULTS: Among 28 included patients, 16 fulfilled the DIC criteria upon admission. VWF-Ag and VWF-RCo were markedly elevated in both groups on arrival and continued to rise during the observational period, without significant group differences. The VWF RCo/vWF Ag ratio was decreased in the DIC group. VWF LMI tended to be lower, and ADAMTS13 activity remained consistently reduced in the DIC group compared with the non-DIC group. Increasing DIC scores were associated with higher VWF Ag and lower VWF LMI and ADAMTS13 activity. CONCLUSION: In patients with OHCA, VWF Ag and functional activity were markedly elevated from the normal range immediately after cardiac arrest. Furthermore, as the severity of DIC increased, ADAMTS13 activity decreased. However, although VWF Ag increased with increasing DIC severity, the multimeric size did not increase but rather decreased. No correlation was observed between VWF activity and DIC severity. These findings do not confirm a causal role of ADAMTS13 and VWF in the pathogenesis of DIC after OHCA. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13011488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146197961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hematologic safety of caplacizumab in immune-mediated thrombotic thrombocytopenic purpura: insights from platelet-related signal detection in the FAERS database.","authors":"Zhenqi Liu, Xu Ye","doi":"10.1186/s12959-026-00840-1","DOIUrl":"10.1186/s12959-026-00840-1","url":null,"abstract":"<p><strong>Background: </strong>Caplacizumab, a nanobody targeting von Willebrand factor, has transformed the management of immune-mediated thrombotic thrombocytopenic purpura (iTTP) by rapidly restoring platelet counts and improving survival. However, comprehensive real-world evidence regarding its hematologic safety profile remains limited.</p><p><strong>Methods: </strong>We conducted a post-marketing pharmacovigilance study using reports from the U.S. FDA Adverse Event Reporting System (FAERS) from 2019 to Q1 2025. Disproportionality analyses were performed using four signal-detection algorithms-reporting odds ratio (ROR), proportional reporting ratio (PRR), Bayesian confidence propagation neural network (BCPNN), and multi-item gamma Poisson shrinker (MGPS)-with false discovery rate adjustment. Time-to-onset was assessed among reports with available dates, and Weibull modeling was applied to characterize onset patterns.</p><p><strong>Results: </strong>A total of 1,306 caplacizumab-related reports were identified, predominantly involving adult female patients with iTTP. Frequently reported adverse events included hematologic and hemorrhagic events (e.g., epistaxis and thrombocytopenia), as well as fatigue and laboratory abnormalities. Significant positive signals were consistently observed for bleeding-related preferred terms across multiple algorithms. The median time to onset was 10 days after treatment initiation, and Weibull modeling suggested an early-failure pattern, indicating greater susceptibility during the initial treatment cycles.</p><p><strong>Conclusions: </strong>In FAERS post-marketing data, caplacizumab-associated adverse events were mainly bleeding-related, generally predictable, and tended to occur early during therapy. Close clinical and laboratory monitoring-particularly of hematologic parameters-during the initial treatment period is warranted to balance bleeding vigilance with therapeutic efficacy. These findings provide real-world evidence to inform hematologists about the safety profile of caplacizumab in iTTP management.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12998118/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146182599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is congenital thrombotic thrombocytopenic purpura a risk factor for ischemic osteonecrosis of the hip joint (Legg-Calvé-Perthes disease)?","authors":"Alexander Laemmle, Bernhard Lämmle","doi":"10.1186/s12959-026-00838-9","DOIUrl":"10.1186/s12959-026-00838-9","url":null,"abstract":"<p><p>Weise et al. reported on a 41-year-old patient previously diagnosed with congenital thrombotic thrombocytopenic purpura undergoing total hip replacement surgery for Perthes disease. This case raises the question whether ischemic osteonecrosis of the femoral head is another so far underrecognized comorbidity causally linked to congenital thrombotic thrombocytopenic purpura.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"24 1","pages":"23"},"PeriodicalIF":2.7,"publicationDate":"2026-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12903209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146182567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High thrombotic burden in severe Chinese wAIHA patients: a single-center retrospective study.","authors":"Jing Xiong, Li Wan, Huixin Chen, Bicheng Hu","doi":"10.1186/s12959-026-00843-y","DOIUrl":"10.1186/s12959-026-00843-y","url":null,"abstract":"<p><p>OBJECTIVE: Patients with warm autoimmune hemolytic anemia (wAIHA) have an established high risk of thrombosis. However, emerging data from Asia, particularly a recent Japanese study, challenge this paradigm. This study aimed to characterize thrombotic events and identify associated risk factors in a cohort of Chinese patients with wAIHA. METHODS: Retrospective analysis of 32 wAIHA patients admitted to Wuhan Hospital of Traditional Chinese and Western Medicine (2020–2024). RESULTS: The cohort comprised 32 wAIHA patients with a median age of 65 years and follow-up of 27 months, comprising 24 (75%) newly diagnosed and 8 (25%) relapsed cases, of which 53% were primary and 47% secondary. After treatment, 19 patients achieved clinical remission, 12 had partial remission, and 1 died from pulmonary embolism. Eight patients (25%) experienced 12 thrombotic events during acute hemolysis: deep vein thrombosis (5), pulmonary embolism (3), acute cerebral infarction (2), disseminated intravascular coagulation (1), and lower limb arterial embolism (1). Comparative analysis showed thrombotic patients had relatively lower hemoglobin (55.88 g/L vs. 74.87 g/L, p = 0.031) and higher lactate dehydrogenase (1064 U/L vs. 439 U/L, p = 0.045) than non-thrombotic patients. No significant differences were found in platelet count, D-dimer, antinuclear antibody, or Padua scores. Significant differences were noted in therapeutic anticoagulation (p < 0.001) and therapeutic plasma exchange (p = 0.023), but not in prophylactic anticoagulation (p = 0.250). CONCLUSIONS: In Chinese wAIHA cohort, thrombosis during acute hemolysis was common and linked to markers of severe disease (low hemoglobin, high LDH, plasma exchange). This distinct high-thrombosis phenotype indicates potential limitations of standard risk tools, necessitating prospective studies for tailored risk stratification and thromboprophylaxis evaluation in this population. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12998170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146166676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic accuracy of D-dimer for predicting postpartum venous thromboembolism: a systematic review and meta-analysis.","authors":"Xing Jin, Zhiting Dong, Limei Zhang, Wei Zheng, Qianying Zhu","doi":"10.1186/s12959-026-00841-0","DOIUrl":"10.1186/s12959-026-00841-0","url":null,"abstract":"<p><p>BACKGROUND: Postpartum women are at increased risk of venous thromboembolism (VTE). Existing risk scores, such as RCOG and Caprini, rely on clinical factors alone and may lack accuracy. D-dimer, a widely used biomarker for VTE in non-pregnant populations, may improve postpartum risk prediction, but evidence remains inconsistent. METHODS: A systematic search of PubMed, Embase, Web of Science, Cochrane Library, and CBM was performed through July 31, 2025. Studies assessing D-dimer alone for postpartum VTE were included. Data were extracted to construct 2 × 2 tables, and pooled estimates were calculated using a bivariate random-effects model. RESULTS: Six studies (14,024 women; 193 VTE cases), all from mainland China, were included. D-dimer cut-offs varied widely (0.56–5.55 mg/L). The pooled sensitivity was 0.82 (95% CI: 0.63–0.93) and specificity was 0.69 (95% CI: 0.42–0.87). The pooled PLR was 2.61, NLR 0.26, and DOR 10.00. The SROC curve yielded an AUC of 0.84, indicating moderate diagnostic accuracy. Leave-one-out analysis confirmed robustness. CONCLUSION: D-dimer shows moderate accuracy for predicting postpartum VTE and may be useful as an adjunct to clinical models, especially in resource-limited settings. However, heterogeneous cut-offs and restriction to Chinese populations limit generalizability. Larger multicenter studies are needed. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12983935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146150681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent venous thrombosis in an adolescent male with CBS mutation and persistent antiphospholipid antibody positivity: a case report.","authors":"Yuebing Wang, Ru Li, Chun Li","doi":"10.1186/s12959-025-00820-x","DOIUrl":"10.1186/s12959-025-00820-x","url":null,"abstract":"<p><p>Homocysteine (Hcy) contributes to endothelial dysfunction and impaired thrombolysis, and genetic polymorphisms that elevate plasma Hcy concentrations have been linked to an increased risk of thrombosis. Notably, mutations in the cystathionine β-synthase (CBS) gene, which reduce enzymatic activity, are a well-established cause of hyperhomocysteinemia (HHcy). This case report presents a 15-year-old male with recurrent, severe deep vein thrombosis (DVT) of the lower extremities, accompanied by persistent positivity for antiphospholipid antibodies. Laboratory evaluation revealed elevated homocysteine levels and mutations in the CBS gene, highlighting an underlying genetic predisposition. The persistent presence of antiphospholipid antibodies further underscores the multifactorial nature of his thrombophilic condition, involving genetic, metabolic, and autoimmune mechanisms.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"24 1","pages":"18"},"PeriodicalIF":2.2,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12874912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146126386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}