Thrombosis Journal最新文献

{"title":"Venous thromboembolism in patients with acute myeloid leukemia: development of a predictive model","authors":"Mirjana Mitrovic, Nikola Pantic, Zoran Bukumiric, Nikica Sabljic, Marijana Virijevic, Zlatko Pravdic, Mirjana Cvetkovic, Nikola Ilic, Jovan Rajic, Milena Todorovic-Balint, Ana Vidovic, Nada Suvajdzic-Vukovic, Jecko Thachil, Darko Antic","doi":"10.1186/s12959-024-00607-6","DOIUrl":"https://doi.org/10.1186/s12959-024-00607-6","url":null,"abstract":"Patients with acute myeloid leukemia (AML) are at increased risk of venous thromboembolic events (VTE). However, thromboprophylaxis is largely underused. This study aimed to determine possible VTE development risk factors and to develop a novel predictive model. We conducted a retrospective cohort study of adult patients with newly diagnosed AML. We used univariate and multivariable logistic regression to estimate binary outcomes and identify potential predictors. Based on our final model, a dynamic nomogram was constructed with the goal of facilitating VTE probability calculation. Out of 626 eligible patients with AML, 72 (11.5%) developed VTE during 6 months of follow-up. Six parameters were independent predictors: male sex (odds ratio [OR] 1.82, 95% confidence interval [CI]: 1.077–2.065), prior history of thrombotic events (OR 2.27, 95% CI: 1.4–4.96), international normalized ratio (OR 0.21, 95% CI: 0.05–0.95), Eastern Cooperative Oncology Group performance status (OR 0.71, 95% CI: 0.53–0.94), and intensive therapy (OR 2.05, 95% CI: 1.07–3.91). The C statistics for the model was 0.68. The model was adequately calibrated and internally validated. The decision-curve analysis suggested the use of thromboprophylaxis in patients with VTE risks between 8 and 20%. We developed a novel and convenient tool that may assist clinicians in identifying patients whose VTE risk is high enough to warrant thromboprophylaxis. Acute myeloid leukemia patients are at increased risk of venous thromboembolism (VTE). Predictive model for VTE development in acute myeloid leukemia patients was created. Six parameters were included in the model: male sex, prior history of thrombotic events, international normalized ratio (iNR), Eastern Cooperative Oncology Group performance status and intensive therapy approach. This model could identify patients whose VTE risk is high enough to warrant thromboprophylaxis.","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"13 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140609285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful ECMO treatment in patients with cerebral hemorrhage and PROC gene mutation associated with VTE: a case report","authors":"Lijie Wang, Chengyong Ma, Luping Wang, Qianrong Ding, Hao Yang, Bo Wang, Qin Wu","doi":"10.1186/s12959-024-00601-y","DOIUrl":"https://doi.org/10.1186/s12959-024-00601-y","url":null,"abstract":"In this report, we report a case of a middle-aged male, admitted to the ICU with cerebral hemorrhage resulting from a severe high-altitude fall. The patient encountered significant challenges in oxygenation index correction, attributed to extensive embolism in both the primary and branch pulmonary arteries. Consequently, the patient underwent an immediate initiation of veno-arterial extracorporeal membrane oxygenation (VA-ECMO) therapy, persisting for 20 days. During this treatment period, a mutation in the protein C (PROC) gene was identified. The medical team meticulously navigated the delicate balance between anticoagulation and bleeding risks. Eventually, the patient was successfully weaned off VA-ECMO and subsequently discharged. This report aims to delve into the etiology and therapeutic approaches of this uncommon case, with the intention of offering insightful reference for managing similar clinical scenarios in the future.","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"52 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140589680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exercise transiently increases the density of incipient blood clots in antiplatelet-treated lacunar stroke patients","authors":"L. B. Nørregaard, K. A. Wickham, J. S. Jeppesen, N. Rytter, L. C. Christoffersen, L. Gliemann, M. Lawrence, P. A. Evans, C. Kruuse, Y. Hellsten","doi":"10.1186/s12959-024-00604-9","DOIUrl":"https://doi.org/10.1186/s12959-024-00604-9","url":null,"abstract":"Older individuals and, in particular, individuals at risk of recurrent stroke, may be susceptible to thrombosis when participating in exercise, however, this aspect has not been well investigated. Clot microstructure and conventional markers of thrombotic risk were determined in twenty lacunar stroke patients and fifteen healthy age-matched controls before, immediately after and 1 h after a bout of moderate intensity cycling exercise. Data were analyzed using a linear mixed model approach. At rest, clot microstructure (1.69 ± 0.07 vs. 1.64 ± 0.05, corresponding to a difference of ~ 50% in normalized clot mass; p = 0.009) and thrombocyte count (73%; p < 0.0001) were higher, and activated partial thromboplastin time was lower (18%; p = 0.0001) in stroke patients compared to age-matched controls. Acute exercise increased thrombogenic markers similarly in the two groups: incipient clot microstructure (1.69 ± 0.07 vs. 1.74 ± 0.05; p = 0.0004 and 1.64 ± 0.05 vs. 1.71 ± 0.04; p < 0.0001, for stroke and controls respectively), plasma fibrinogen (12%; p < 0.0001 and 18%; p < 0.0001, for stroke and controls respectively) and the combined coagulation factors II, VII and X (p = 0.0001 and p < 0.0001, for stroke and controls respectively). The results show that exercise transiently increases the risk of blood clot formation in both stroke patients and controls, however, due to the higher baseline thrombogenicity in stroke patients, the post exercise risk of forming blood clots may be higher in this group. Registered at ClinicalTrials.gov (NCT03635177).","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"6 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140589667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Under the dual effect of inflammation and pulmonary fibrosis, CTD-ILD patients possess a greater susceptibility to VTE","authors":"Wenli Jiang, Wenhui Jia, Chunling Dong","doi":"10.1186/s12959-024-00599-3","DOIUrl":"https://doi.org/10.1186/s12959-024-00599-3","url":null,"abstract":"As an autoimmune disease, the persistent systemic inflammatory response associated with connective tissue disease (CTD) is involved in the development of venous thromboembolism (VTE). However, clinical data showed that the risk of VTE in patients differed between subtypes of CTD, suggesting that different subtypes may have independent mechanisms to promote the development of VTE, but the specific mechanism lacks sufficient research at present. The development of pulmonary fibrosis also contributes to the development of VTE, and therefore, patients with CTD-associated interstitial lung disease (CTD-ILD) may be at higher risk of VTE than patients with CTD alone or patients with ILD alone. In addition, the activation of the coagulation cascade response will drive further progression of the patient’s pre-existing pulmonary fibrosis, which will continue to increase the patient’s risk of VTE and adversely affect prognosis. Currently, the treatment for CTD-ILD is mainly immunosuppressive and antirheumatic therapy, such as the use of glucocorticoids and janus kinase-inhibitors (JAKis), but, paradoxically, these drugs are also involved in the formation of patients’ coagulation tendency, making the clinical treatment of CTD-ILD patients with a higher risk of developing VTE challenging. In this article, we review the potential risk factors and related mechanisms for the development of VTE in CTD-ILD patients to provide a reference for clinical treatment and prevention.","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"46 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140589688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The genetic causal relationship between type 2 diabetes, glycemic traits and venous thromboembolism, deep vein thrombosis, pulmonary embolism: a two-sample Mendelian randomization study","authors":"Mingyi Yang, Xianjie Wan, Yani Su, Ke Xu, Pengfei Wen, Binfei Zhang, Lin Liu, Zhi Yang, Peng Xu","doi":"10.1186/s12959-024-00600-z","DOIUrl":"https://doi.org/10.1186/s12959-024-00600-z","url":null,"abstract":"To investigate the genetic underpinnings of the association between type 2 diabetes (T2D), glycemic indicators such as fasting glucose (FG), fasting insulin (FI), and glycated hemoglobin (GH), and venous thromboembolism (VTE), encompassing deep vein thrombosis (DVT) and pulmonary embolism (PE), thereby contributing novel insights to the scholarly discourse within this domain. Genome-wide association study (GWAS) summary data pertaining to exposures (T2D, FG, FI, GH) and outcomes (VTE, DVT, PE) were acquired from the IEU Open GWAS database, encompassing participants of European descent, including both male and female individuals. Two-sample Mendelian randomization (MR) analyses were conducted utilizing the TwoSampleMR and MRPRESSO packages within the R programming environment. The primary analytical approach employed was the random-effects inverse variance weighted (IVW) method. Heterogeneity was assessed via Cochran’s Q statistic for MR-IVW and Rucker’s Q statistic for MR-Egger. Horizontal pleiotropy was evaluated using the intercept test of MR Egger and MR pleiotropy residual sum and outlier (MR-PRESSO) analysis, with the latter also employed for outlier detection. Additionally, a “Leave one out” analysis was conducted to ascertain the influence of individual single nucleotide polymorphisms (SNPs) on MR results. The random-effects IVW analysis revealed a negative genetic causal association between T2D) and VTE (P = 0.008, Odds Ratio [OR] 95% confidence interval [CI] = 0.896 [0.827–0.972]), as well as between FG and VTE (P = 0.002, OR 95% CI = 0.655 [0.503–0.853]), GH and VTE (P = 0.010, OR 95% CI = 0.604 [0.412–0.884]), and GH and DVT (P = 0.002, OR 95% CI = 0.413 [0.235–0.725]). Conversely, the random-effects IVW analysis did not detect a genetic causal relationship between FI and VTE (P > 0.05), nor between T2D, FG, or FI and DVT (P > 0.05), or between T2D, FG, FI, or GH and PE (P > 0.05). Both the Cochran’s Q statistic for MR-IVW and Rucker’s Q statistic for MR-Egger indicated no significant heterogeneity (P > 0.05). Moreover, the intercept tests of MR Egger and MR-PRESSO suggested the absence of horizontal pleiotropy (P > 0.05). MR-PRESSO analysis identified no outliers, while the “Leave one out” analysis underscored that the MR analysis was not influenced by any single SNP. Our investigation revealed that T2D, FG, and GH exhibit negative genetic causal relationships with VTE at the genetic level, while GH demonstrates a negative genetic causal relationship with DVT at the genetic level. These findings furnish genetic-level evidence warranting further examination of VTE, DVT, and PE, thereby making a contribution to the advancement of related research domains.","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"45 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140325791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"External validation and update of the International Medical Prevention Registry on Venous Thromboembolism bleeding risk score for predicting bleeding in acutely ill hospitalized medical patients: a retrospective single-center cohort study in Japan","authors":"Daichi Arakaki, Mitsunaga Iwata, Teruhiko Terasawa","doi":"10.1186/s12959-024-00603-w","DOIUrl":"https://doi.org/10.1186/s12959-024-00603-w","url":null,"abstract":"The International Medical Prevention Registry for Venous Thromboembolism (IMPROVE) Bleeding Risk Score is the recommended risk assessment model (RAM) for predicting bleeding risk in acutely ill medical inpatients in Western countries. However, few studies have assessed its predictive performance in local Asian settings. We retrospectively identified acutely ill adolescents and adults (aged ≥ 15 years) who were admitted to our general internal medicine department between July 5, 2016 and July 5, 2021, and extracted data from their electronic medical records. The outcome of interest was the cumulative incidence of major and nonmajor but clinically relevant bleeding 14 days after admission. For the two-risk-group model, we estimated sensitivity, specificity, and positive and negative predictive values (PPV and NPV, respectively). For the 11-risk-group model, we estimated C statistic, expected and observed event ratio (E/O), calibration-in-the-large (CITL), and calibration slope. In addition, we recalibrated the intercept using local data to update the RAM. Among the 3,876 included patients, 998 (26%) were aged ≥ 85 years, while 656 (17%) were hospitalized in the intensive care unit. The median length of hospital stay was 14 days. Clinically relevant bleeding occurred in 58 patients (1.5%), 49 (1.3%) of whom experienced major bleeding. Sensitivity, specificity, NPV, and PPV were 26.1% (95% confidence interval [CI]: 15.8–40.0%), 84.8% (83.6–85.9%), 98.7% (98.2–99.0%), and 2.5% (1.5–4.3%) for any bleeding and 30.9% (95% CI: 18.8–46.3%), 84.9% (83.7–86.0%), 99.0% (98.5–99.3%), and 2.5% (1.5–4.3%) for major bleeding, respectively. The C statistic, E/O, CITL, and calibration slope were 0.64 (95% CI: 0.58–0.71), 1.69 (1.45–2.05), − 0.55 (− 0.81 to − 0.29), and 0.58 (0.29–0.87) for any bleeding and 0.67 (95% CI: 0.60–0.74), 0.76 (0.61–0.87), 0.29 (0.00–0.58), and 0.42 (0.19–0.64) for major bleeding, respectively. Updating the model substantially corrected the poor calibration observed. In our Japanese cohort, the IMPROVE bleeding RAM retained the reported moderate discriminative performance. Model recalibration substantially improved the poor calibration obtained using the original RAM. Before its introduction into clinical practice, the updated RAM needs further validation studies and an optimized threshold.","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"39 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140312103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insight into antiphospholipid syndrome: the role and clinical utility of neutrophils extracellular traps formation","authors":"Shams ElDoha Galal ElDin Zaiema, Menna Allah Zakaria Mohammad Ali Abou Elwafa, Shaymaa Gamal Arafa Hassan, Radwa Hassan Abou El Fotoh El Adwey, Raghda Mohammed Mostafa Ghorab, Raghda El Sayed Abdel Monem Galal","doi":"10.1186/s12959-024-00598-4","DOIUrl":"https://doi.org/10.1186/s12959-024-00598-4","url":null,"abstract":"Antiphospholipid syndrome (APLS) is a systemic immune dysregulation distinguished by repetitive complications and pregnancy loss in the absence of definite etiology. Most research focuses on the laboratory detection and clinical features of APLS, but its precise etiology remains to be deeply explored. NETosis is a newly developed theory in the pathophysiology of APLS which may serve as the missing bridge between coagulation and inflammation reaching the disease progression and severity. We aimed in this study to navigate the prognostic role of NETosis in thrombotic APLS. Our study included 49 newly diagnosed APLS patients (both 1ry and 2ry) who met clinical and laboratory criteria as per the international consensus statement on the update of the classification criteria for definite APLS and were sub-classified according to the occurrence of thrombotic events in thrombotic and non-thrombotic types. In addition, 20 sex and age-matched reactive subjects and 20 sex and age-matched healthy volunteer controls were enrolled. NETosis formation was assessed by measuring serum Myeloperoxidase (MPO) and Histones level using the enzyme-linked immunosorbent assay (ELISA) technique. Both MPO and Histones levels were able to discriminate among APLS cases from normal controls, showing significant cutoffs of > 2.09 ng/ml for MPO and > 1.45 ng/ml for Histones (AUC values were 0.987and 1.000, respectively). These values can be used as predictors for NETosis pathophysiology in APLS patients. Additionally, these markers demonstrated a significant association with several prognostic indicators, including thrombosis, higher PT and INR, and lower hemoglobin (Hb) levels which are supposed to be ameliorated by using NETs inhibitors. In conclusion, we suggest that measuring NETosis markers, MPO, and Histones, in the early course of APLS using proposed cutoff values will facilitate the timely initiation of anti-NETosis therapy and improve the overall prognosis, particularly for patients with thrombotic APLS.","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"2672 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140311952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prophylaxis with enoxaparin and antithrombin III in drug-induced coagulation alterations in childhood leukemia: a retrospective experience of 20 years.","authors":"Christina Salvador, Robert Salvador, Gabriele Kropshofer, Bernhard Meister, Marie Rock, Petra Obexer, Benjamin Hetzer, Evelyn Rabensteiner, Roman Crazzolara","doi":"10.1186/s12959-024-00602-x","DOIUrl":"10.1186/s12959-024-00602-x","url":null,"abstract":"<p><strong>Background: </strong>Thromboembolic complications are well known in the treatment of childhood acute lymphoblastic leukemia. Over the years it has not been possible to reach a consensus on a possible prophylaxis of thromboembolic events during intensive therapy. Only the administration of enoxaparin was able to achieve evidence in the literature to date.</p><p><strong>Methods: </strong>In this retrospective study, 173 childhood leukemia patients were treated over 20 years with a thromboembolic prophylaxis including enoxaparin and AT III during induction therapy with L-asparaginase and cortisone.</p><p><strong>Results: </strong>We here report the effectiveness of administration of enoxaparin and AT III in childhood leukemia, showing a strikingly low prevalence of deep vein thrombosis (2.9%). Especially in adolescent patients, a particularly great need for AT III was demonstrated.</p><p><strong>Conclusions: </strong>We recommend thromboembolic prophylaxis with enoxaparin and AT III substitution during induction/reinduction therapy with L-asparaginase and glucocorticosteroids, especially from adolescence onwards.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"22 1","pages":"30"},"PeriodicalIF":3.1,"publicationDate":"2024-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10976720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140307017","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":"Renal damage and old age: risk factors for thrombosis in patients with ANCA-associated vasculitis","authors":"Xin Chen, Shuo Zhang, Ruilian You, Yixin Ma, Peng Xia, Xiaoxiao Shi, Haiting Wu, Ke Zheng, Yan Qin, Xinping Tian, Limeng Chen","doi":"10.1186/s12959-024-00593-9","DOIUrl":"https://doi.org/10.1186/s12959-024-00593-9","url":null,"abstract":"Thrombosis in ANCA-associated vasculitis (AAV) was prevalent and has been neglected in Chinese patients. This study tried to describe the clinical characteristics, identify the risk factors, and investigate the causal relationship between AAV and venous thromboembolism (VTE) by two-sample Mendelian randomization (MR) analysis. In this retrospective, observational study, we included all hospitalized AAV patients from Jan 2013 to Apr 2022 in Peking Union Medical College Hospital. We collected their clinical data for multivariate regression analysis to determine the risk factors for thrombosis. The nomogram was constructed by applying these risk factors to predict thrombosis in AAV patients. As for MR analysis, we selected single nucleotide polymorphisms (SNPs) related to AAV from published genome-wide association studies and extracted the outcome data containing deep vein thrombosis (DVT) and pulmonary embolism (PE) from the UK biobank. 1203 primary AAV patients were enrolled, and thrombosis occurred in 11.3%. Multivariate regression suggested that older than 65 years, EGPA, neurological involvement, lung involvement, significantly elevated serum creatinine (> 500µmol/L), and elevated D-dimer were associated with thrombosis in AAV patients. The model demonstrated satisfied discrimination with an AUC of 0.769 (95% CI, 0.726–0.812). MR analysis showed that EGPA could increase the risk of developing DVT and PE (OR = 1.0038, 95%CI = 1.0035–1.0041, P = 0.009). Thrombosis was not rare in Chinese patients with AAV. Renal damage and old age emerged as critical risk factors for thrombosis. EGPA might have a potential causal relationship with DVT and PE.","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"554 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140171867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two cases of venous thromboembolism in siblings after splenectomy due to a novel PROC gene mutation","authors":"Yunfang Zhang, Bo Wang, Yuxin Bai, Anxin Wang","doi":"10.1186/s12959-024-00597-5","DOIUrl":"https://doi.org/10.1186/s12959-024-00597-5","url":null,"abstract":"Venous thromboembolism(VTE)is a common multifactorial disease. Anticoagulant protein deficiency is the most usual hereditary thrombophilia in the Chinese people, which includes protein C(PC), protein S and antithrombin deficiencies. A retrospective analysis was conducted on clinical manifestations, laboratory tests, genetic information, and other relevant data of siblings diagnosed with VTE in 2020 at the Department of Pediatrics of Shenzhen Second People’s Hospital. The proband, a 12-year-old female, was admitted to the hospital in December 2020 with a complaint of pain in the left lower limb for four days. The examination found that the PC activity was 53%, and B-ultrasound showed bilateral thrombosis of the great saphenous vein in the thigh segment. The proband’s younger brother, a 10-year-old male, was admitted to the hospital in January 2021 due to right lower limb pain for two weeks. PC activity is 40%. B-ultrasound showed superficial venous thrombosis in the left lower limb and upper limb. Both siblings suffered from thalassemia and underwent splenectomy before recurrent thrombosis occurred. The proband’s mother was asymptomatic, and her PC activity was 45%. Both cases were treated with warfarin anticoagulation, and their symptoms improved. The proband’s mother was found to have a heterozygous mutation at this locus through Sanger sequencing. Protein C deficiency should be considered for venous thromboembolism in childhood. The heterozygous mutation 1204 A > G in PROC exon 9 in this family is reported for the first time.","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"164 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140171772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}