Thrombosis Journal最新文献

{"title":"Characterization of anticoagulated patients in a Latin American country: indications, treatment patterns, and complications.","authors":"Sebastián Seni-Molina, Arturo D Mora, Valeria Azcarate-Rodriguez, Juan Andrés Muñoz-Ordoñez, Hoover O León-Giraldo, Skarlett Estupiñan, Ana Cristina Montenegro-Arenas, Jesús Arguello, Dora Ines Molina, Fernando Rivera Toquica, Rubiela Ardilla Muñoz, Julián Lugo-Peña, Juan Alberto Ceron, Jhon Ubeimar Cataño-Bedoya, Gilberto Amed Castillo-Barrios, Juan Esteban Gómez-Mesa","doi":"10.1186/s12959-025-00821-w","DOIUrl":"10.1186/s12959-025-00821-w","url":null,"abstract":"<p><p>INTRODUCTION: Thromboembolic disorders remain a leading cause of morbidity and mortality. Although anticoagulation therapy (AT) has reshaped practice worldwide, real-world data on AT use and outcomes in Latin America, particularly Colombia, are scarce. To bridge this gap, we established the Registro Colombiano de Clínicas de Anticoagulación (RECCANT). OBJECTIVE: To describe the sociodemographic, clinical, and therapeutic characteristics of anticoagulated patients managed in multiple healthcare centers in Colombia. METHODS: We performed a prospective, observational, and multicenter study of adults receiving oral or parenteral anticoagulation among several Colombian institutions (2023–2025). Consecutive outpatients with an anticipated therapy duration ≥ 3 months were enrolled. Sociodemographic and clinical data were recorded prospectively. This interim analysis describes the first 2,000 patients recruited from nine institutions. RESULTS: Of the first 2,000 recruited patients, 58.2% were women, with a median age of 65 years (IQR 49–77). Hypertension (37.1%) and dyslipidemia (25.8%) were the most prevalent comorbidities. Venous thromboembolism (VTE) was the leading indication for anticoagulation (70.1%), followed by atrial fibrillation (14.0%). In terms of agents used, apixaban was most frequently used (37.6%), followed by rivaroxaban (26.9%), enoxaparin (17.7%), and warfarin (15.0%). Among 1,640 chronic and recent users, 152 patients (9.3%) experienced complications after AT initiation: 67.1% hemorrhagic, 27.0% thromboembolic, and 5.9% both. Major bleeding occurred in 2.6% of these patients and in 38.7% of those who experienced hemorrhagic complications. Gastrointestinal bleeding (33.3%) and ischemic stroke (46.0%) were the most frequent hemorrhagic and thromboembolic complications, respectively. CONCLUSION: RECCANT reveals a relatively young, highly comorbid anticoagulated population in Colombia, with VTE as the main indication. High complication rates, particularly hemorrhagic events, underscore the need to strengthen existing anticoagulation care to ensure safer and more effective therapy. These findings are intended to provide preliminary insights into anticoagulation patterns among patients treated in specialized anticoagulation clinics in Colombia and may also be relevant for other Latin American settings. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":"8"},"PeriodicalIF":2.7,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12805723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145918606","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":"2 cases of pegylated asparaginase-associated cerebral venous sinus thrombosis in children: clinical analysis and literature review.","authors":"Meijun Chen, Guanwen Lu, Yongxian Huang, Zhengbin Hu","doi":"10.1186/s12959-025-00822-9","DOIUrl":"10.1186/s12959-025-00822-9","url":null,"abstract":"<p><p>BACKGROUND: Cerebral venous sinus thrombosis (CVST) is a serious complication in children with acute lymphoblastic leukemia (ALL) undergoing chemotherapy with pegylated asparaginase (PEG-Asp). This study aims to investigate its risk factors, clinical features, and prognosis. METHODS: We retrospectively analyzed the clinical manifestations, laboratory findings, imaging characteristics, treatment, and outcomes of two pediatric ALL patients who developed CVST during induction remission therapy at our center. Additionally, a systematic literature review was conducted to contextualize our findings. RESULTS: Both children were treated per the CCCG-ALL-2020 protocol and developed CVST approximately two weeks after the first PEG-Asp dose, presenting with generalized tonic-clonic seizures. Notably, platelet counts were normal at presentation. Coagulation tests primarily showed decreased fibrinogen (FIB) and antithrombin III (AT-III). Head magnetic resonance imaging (MRI) and magnetic resonance venography (MRV) confirmed venous sinus thrombosis with hemorrhage. Management included fresh frozen plasma and fibrinogen infusion, mannitol for intracranial pressure reduction, and rivaroxaban for anticoagulation. Both patients recovered without recurrence of thrombosis upon subsequent PEG-Asp exposure. CONCLUSION: During ALL chemotherapy involving PEG-Asp, regular monitoring of coagulation parameters (especially FIB and AT-III) is crucial. Unexplained neurological symptoms should raise suspicion for CVST, warranting prompt MRI + MRV. Anticoagulation with rivaroxaban was effective in these cases, yielding favorable outcomes. CVST complicating the induction phase of ALL requires heightened clinical awareness for early prevention, diagnosis, and treatment. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":"5"},"PeriodicalIF":2.7,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12781380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145918625","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":"Echinocandins and coagulation dysfunction events.","authors":"Hong Tham Pham, Kim-Huong Truong-Nguyen, Minh-Hoang Tran","doi":"10.1186/s12959-025-00774-0","DOIUrl":"10.1186/s12959-025-00774-0","url":null,"abstract":"<p><p>Despite the recently reported real-world evidence of the signals between echinocandins and coagulation dysfunction events, there are some concerns that may impact the robustness and implications of these findings. For the study design, combining hypercoagulation and hypocoagulation into a single category, \"coagulation dysfunction events,\" may introduce data heterogeneity and complicate interpretation. Possible misclassification of thrombocytopenia and platelet count decreases in spontaneous reports could influence the results and their implications for surveillance activities. For the statistical methods, the analysis reported only crude signal estimates without adjustments for potential confounders. In some comparisons, using Pearson's Chi-square test was inappropriate to investigate the strength or direction of the signals. For the data interpretation, the use of \"time to onset\" could be misleading without confirmation of temporality (e.g., events detected on day 0 could have occurred before antifungal initiation). Translating pharmacovigilance signals into predictability without evidence of stronger association was also inappropriate. Addressing these issues could strengthen the insights into echinocandins-induced coagulation dysfunctions and expedite further investigation into these adverse events.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"24 1","pages":"1"},"PeriodicalIF":2.7,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12911308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146214283","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":"Qiliqiangxin capsule attenuates platelet activation and thrombosis by suppressing Ca²⁺ influx and PKC signaling.","authors":"Liping Han, Wei Zhang, Changyu Huo, Anqi Zhou, Ziru Huang, Yanqi Wang, Biwei Yang, Lihua Cao, Si Zhang, Jiayu Zheng, Rong Xia","doi":"10.1186/s12959-025-00823-8","DOIUrl":"10.1186/s12959-025-00823-8","url":null,"abstract":"<p><p>BACKGROUND: Arterial thrombotic diseases are leading causes of global morbidity and mortality, primarily driven by platelet hyperactivity. Qiliqiangxin capsules (QLQX), a traditional Chinese medicine approved in China for the treatment of heart failure, have exhibited potential benefits in reducing cardiovascular death. However, its direct effects on platelet activation and thrombosis remain unclear. METHODS AND RESULTS: Ex vivo platelet function assays demonstrated that oral QLQX inhibited agonist‑induced aggregation in platelet‑rich plasma (PRP) from chronic heart failure (CHF) patients and dose-dependently suppressed washed platelet aggregation in wild‑type mice. In parallel, QLQX administration attenuated platelet spreading and clot retraction in washed platelets from both patients with CHF and wild-type mice, and reduced ex vivo thrombus formation area in a microfluidic whole‑blood perfusion under arterial shear stress. Flow cytometry analysis revealed that QLQX did not affect the surface expression levels of the major platelet receptors, but reduced the activation of αIIbβ3 and P-selectin exposure induced by thrombin in mouse platelets. In vivo experiments demonstrated that QLQX treatment inhibited FeCl₃-induced thrombus formation in mesenteric arterioles, reduced collagen/epinephrine-induced pulmonary embolism, and mitigated microvascular thrombosis during myocardial ischemia-reperfusion (I/R) injury, without increasing bleeding in mice. RNA sequencing of platelets from QLQX- versus vehicle-treated mice identified differentially expressed genes enriched in the calcium signaling pathway, and functional assays demonstrated that QLQX inhibited agonist-induced platelet Ca²⁺ influx and PKC phosphorylation. CONCLUSION: QLQX inhibits platelet activation and thrombosis by targeting Ca²⁺ influx and PKC signaling, supporting its potential therapeutic value in preventing thrombotic complications. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":"2"},"PeriodicalIF":2.7,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12772080/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145896961","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":"Elevated tricuspid peak systolic gradient with enlarged right ventricle present during acute episode of pulmonary embolism predict subsequent chronic thromboembolic pulmonary hypertension.","authors":"Olga Dzikowska-Diduch, Iwona Dudzik-Niewiadomska, Katarzyna Kurnicka, Barbara Lichodziejewska, Katarzyna Perzanowska-Brzeszkiewicz, Mateusz Kuropatwa, Andrzej Łabyk, Marek Roik, Dariusz Zieliński, Marek Gołębiowski, Piotr Pruszczyk","doi":"10.1186/s12959-025-00818-5","DOIUrl":"10.1186/s12959-025-00818-5","url":null,"abstract":"<p><p>BACKGROUND: Chronic thromboembolic pulmonary hypertension (CTEPH) is a progressive disease with poor outcome if left untreated. Identifying patients at risk of CTEPH already at acute pulmonary embolism (APE) would lead to earlier goal-directed management. Since echocardiography is frequently performed during APE we aimed to assess its predictive value for subsequent CTEPH. METHODS: During follow up all symptomatic patients underwent diagnostic workup for CTEPH. Echocardiographic parameters recorded during the APE episode were analyzed for subsequent CTEPH. RESULTS: The study included 625 patients (345 F, age 60.36 ± 17.71), 25 subjects (4%) (12 F; age 62.9 ± 18.8), were diagnosed with CTEPH. Patients with CTEPH presented at APE diagnosis more severe echocardiographic signs of right ventricular (RV) pressure overload. Multivariate analysis revealed that only tricuspid regurgitation peak gradient (TRPG), (OR = 1.05 CI95[1.03; 1.08], p < 0.001) and RV to left ventricle ratio (RV/LV), (OR = 9.86 CI95[2.26; 43.56], p = 0.002) were significant predictors of CTEPH. ROC analysis of TRPG for the diagnosis of CTEPH had AUC = 0.792 CI95[0.683-0.900], while RV/LV 0.777 CI95[0.675–0.878]. Combination of RV/LV ≥ 1.14 and TRPG ≥ 44mmHg (tricuspid regurgitation velocity (TRV) ≥ 3.3 m/s) present in 8.1% of patients identified high risk category of subsequent CTEPH with CTEPH incidence of 28.2% CI95[15.0-44.9%] (sensitivity 47.8% CI95[26.8–69.4%], specificity 93.9% CI95[91.3–95.9%], NPV 97.3% CI95[96.0-98.1%], PPV 28.2% CI95[18.4–40.7%]). TRPG < 44mmHg (TRV < 3.3 m/s) with RV/LV ratio < 1.14 present 66.7% of studied patents formed low risk group with CTEPH incidence of 1.6% CI95 [0.5–3.6%] (sensitivity 21.7% CI95 [7.5–43.7%], specificity 31.1% CI95 [26.9–35.5%]. CONCLUSIONS: Combination of TRPG ≥ 44mmHg (TRV ≥ 3.3 m/s) with RV/LV ≥ 1.14 present at echocardiography during acute PE identifies patients at high risk of subsequent CTEPH and our opinion warrants their active screening for CTEPH. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":"16"},"PeriodicalIF":2.7,"publicationDate":"2025-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12853799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145846353","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":"From bilateral pulmonary embolism to the final diagnosis of Behçet's disease: a rare case report.","authors":"Shamim Imani Gorji, Ali Akbari, Ourmaan Nezami Narjabad, Mohammad Hadi Tajik Jalayeri","doi":"10.1186/s12959-025-00816-7","DOIUrl":"10.1186/s12959-025-00816-7","url":null,"abstract":"<p><p>BACKGROUND: Behçet’s disease (BD) is a chronic, relapsing multisystem vasculitis that most frequently presents with recurrent oral and genital ulcers, ocular involvement, and skin lesions. Vascular complications are well recognized, but pulmonary embolism (PE) is an uncommon manifestation, despite the high prevalence of venous thrombosis in BD. When it occurs, PE can be life-threatening and poses significant diagnostic and therapeutic challenges. CASE PRESENTATION: A 38-year-old male with no prior comorbidities presented with recurrent hemoptysis, fever, and systemic symptoms of several months’ duration. Initial laboratory tests, chest CT, HRCT, and bronchoscopy with bronchoalveolar lavage (BAL) revealed no specific findings, and tuberculosis was excluded through negative acid-fast bacilli smear, culture, and PCR. Despite an extensive work-up, recurrent hemoptysis persisted. CT pulmonary angiography unexpectedly demonstrated bilateral pulmonary emboli, disproportionate to the relatively mild clinical presentation. Further rheumatologic evaluation revealed a genital scar and recurrent painful oral lesions, fulfilling the clinical criteria for BD. Immunologic and serologic tests, including HLA-B51, ANA, ANCA, anti-dsDNA, C3, and C4, were all negative, and ophthalmologic examination showed no ocular involvement. The patient was treated with high-dose intravenous methylprednisolone followed by azathioprine as maintenance therapy, along with apixaban for anticoagulation. During follow-up, recurrent oral ulcers, folliculitis/pseudofolliculitis, and erythema nodosum developed, which further supported the diagnosis. CONCLUSION: This case highlights pulmonary embolism as a rare but severe manifestation of BD that may precede classical mucocutaneous features. It emphasizes the importance of thorough history-taking and physical examination when laboratory and imaging results are inconclusive. Early recognition of BD in patients with unexplained pulmonary embolism is essential, as timely initiation of immunosuppressive and anticoagulant therapy can improve outcomes and prevent life-threatening complications. TRIAL REGISTRATION: Not applicable. </p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":"14"},"PeriodicalIF":2.7,"publicationDate":"2025-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12849545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145844384","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":"A pedigree analysis of deep venous thrombosis caused by rare compound heterozygous PROC mutations combined with a heterozygous THBD mutation.","authors":"Rui Tuo, Lixuan Chen, Xingxian Xiao, Qinglin Mo, Chaolin Chen, Chang Su, Ying Feng, Yang Xiao","doi":"10.1186/s12959-025-00824-7","DOIUrl":"10.1186/s12959-025-00824-7","url":null,"abstract":"<p><p>Venous thromboembolism is a common fatal disease that includes pulmonary embolism (PE) and deep vein thrombosis (DVT), and many genetic risk factors are associated with its pathogenesis. We describe a patient with compound heterozygous mutations in PROC combined with a heterozygous mutation in THBD, who was diagnosed with DVT. Genetic sequencing identified three missense mutations in the proband: PROC c.565 C > T (p.R189W), PROC c.1218G > A (p.M406I), and THBD c.1456G > T (p.D486Y), this genotype not previously documented in association with thrombotic disease. His father carried heterozygous mutations of PROC p.R189W and THBD p.D486Y, while his mother and maternal grandfather were heterozygous for PROC p.M406I. These mutations were not detected in other family members.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":"13"},"PeriodicalIF":2.7,"publicationDate":"2025-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12849342/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145844363","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":"Predictive value of serum homocysteine and potassium ion for short-term prognosis of patients with acute cerebral infarction following intravenous thrombolysis with recombinant tissue plasminogen activator.","authors":"Lingen Pang, Yongan Sun, Mingli He, Bingchao Xu","doi":"10.1186/s12959-025-00810-z","DOIUrl":"10.1186/s12959-025-00810-z","url":null,"abstract":"<p><strong>Objective: </strong>This study evaluated the predictive value of serum homocysteine (HcY) and potassium ion (K⁺) for short-term prognosis of patients with acute cerebral infarction (ACI) undergoing intravenous thrombolysis with recombinant tissue plasminogen activator (rt-PA).</p><p><strong>Methods: </strong>Totally, 140 ACI patients receiving intravenous thrombolysis using rt-PA were finally included and classified into early neurological deterioration (END) and non-END groups. Serum levels of HcY and electrolytes were detected. The 90-day prognosis of patients after thrombolysis was analyzed. Influencing factors for END and poor short-term prognosis in rt-PA-treated ACI patients were identified using stepwise regression models. Correlations of serum HcY and K⁺ with modified Rankin scale (mRS) scores were analyzed, and values of serum HcY and K⁺ in assessing END and poor prognosis of ACI patients were determined.</p><p><strong>Results: </strong>The END group had higher age, atrial fibrillation, neutrophil ratio, CysC, FIB, FPG, TNF-ɑ, IL-6 and HcY levels, and National Institutes of Health Stroke Scale scores on admission but lower serum calcium ion and K⁺ concentrations than the non-END group. In ACI patients, serum HcY and K⁺ levels significantly correlated with mRS scores. Serum HcY and K⁺ levels were independent influencing factors for END and poor short-term prognosis of rt-PA-treated ACI patients. Combination of serum HcY and K⁺ could assist in predicting END and poor short-term prognosis in ACI patients.</p><p><strong>Conclusion: </strong>Serum HcY and K⁺ levels are closely linked to END and short-term prognosis in ACI patients after intravenous thrombolysis using rt-PA and can be used as novel biomarkers for short-term prognosis in ACI patients.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":"12"},"PeriodicalIF":2.2,"publicationDate":"2025-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12849246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145834590","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":"Association of the p.Phe155del mutation in SERPINC1 with changed antithrombin function and increased risk of venous thromboembolism: clinical and functional observations.","authors":"Jing Lu, Zuoyu Qin, Yining Lan, Jianlin Zhang, Zhilin Yu, Jialan Liang, Yanyan Tang","doi":"10.1186/s12959-025-00802-z","DOIUrl":"10.1186/s12959-025-00802-z","url":null,"abstract":"<p><strong>Introduction: </strong>Antithrombin (AT) deficiency, often caused by mutations in the SERPINC1 gene, is a well-established risk factor for venous thromboembolism (VTE), which can lead to serious complications such as deep vein thrombosis (DVT), pulmonary embolism (PE), and cerebral venous sinus thrombosis (CVST). Syndecan-4 (SDC4), an endothelial cell membrane protein, enhances AT's anticoagulant function by facilitating its interaction with the vascular endothelium, thereby supporting hemostatic balance.</p><p><strong>Methods: </strong>Our team enrolled a patient diagnosed with CVST, and subsequent genetic testing identified the SERPINC1 p.Phe155del variant. This study sought to elucidate the interaction between AT mutations and SDC4 in VTE pathogenesis using clinical case analyses, molecular docking, co-immunoprecipitation (Co-IP), and immunofluorescence assays.</p><p><strong>Results: </strong>The patient was diagnosed with Type I hereditary AT deficiency, with a five-generation family pedigree constructed. Molecular docking simulations showed the SERPINC1 p.Phe155del variant weakened the protein's interaction with SDC4. Cell-level co-immunoprecipitation and immunofluorescence results were consistent with molecular docking findings, confirming that the SERPINC1 p.Phe155del mutant binds less strongly to SDC4 than the wild-type.</p><p><strong>Conclusion: </strong>This reduced binding may underlie hereditary AT deficiency and increased venous thrombosis risk. The findings from this research deepen understanding of the connection between hereditary hypercoagulable states and VTE -with CVST as one possible clinical manifestation-offering new insights to inform clinical diagnosis and treatment.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"23 1","pages":"120"},"PeriodicalIF":2.2,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12723898/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145811070","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":"Type 3 von Willebrand disease in Ethiopia: a comprehensive literature review and report of the first three cases.","authors":"Gashaw Arega, Elezer Berhanu Zewde, Abdulkadir Mohamed Said, Samuel Zerihun Tesfaye, Tinsae Yidnekachew Tamiru, Telila Kumneger Belisa, Melat Shewabera Ejersa, Andebet Sisay Deress","doi":"10.1186/s12959-025-00819-4","DOIUrl":"10.1186/s12959-025-00819-4","url":null,"abstract":"<p><p>Type 3 von Willebrand disease (VWD) is the rarest and most severe form of VWD, resulting from a complete loss of function of the von Willebrand factor (VWF). This disease presents bleeding symptoms that are characteristic of primary hemostasis disorders and hemophilia-like bleeding. We present a case series of the first three patients diagnosed with type 3 VWD in Ethiopia. All three patients presented with episodes of frequent epistaxis, easy bruising, and prolonged bleeding from minor injuries. Comprehensive laboratory evaluation revealed severe anemia, markedly prolonged activated partial thromboplastin time (aPTT), complete absence of VWF, and profoundly decreased clotting factor VIII (FVIII) activity in all patients, thereby establishing the diagnosis of type 3 VWD. Patients are currently managed with frequent fresh frozen plasma, cryoprecipitate, and tranexamic acid (TXA) due to the unavailability of VWF replacement therapy in the country. For treatment response, clinical follow-up with serial aPTT monitoring was performed. Under this supportive regimen, both the frequency of mucosal bleeding episodes and the need for fresh frozen plasma (FFP) and cryoprecipitate transfusions have decreased, with transfusions required at intervals of approximately every 3-4 weeks. Thorough assessment, accurate diagnosis, and proper classification of VWD are crucial because they significantly affect patient management and treatment modalities. Type 3 VWD is often underdiagnosed and undertreated in developing countries because of the lack of available diagnostic laboratory investigations and VWF-containing concentrates.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":"121"},"PeriodicalIF":2.2,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12752083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145811093","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}