Blood Coagulation & Fibrinolysis最新文献

{"title":"Glanzmann's thrombasthenia associated with gastrointestinal angiodysplasias successfully treated with bevacizumab.","authors":"Agustina Saladino, María L Gonzalez, Fernando A Chuliber, Marcelo M Serra","doi":"10.1097/MBC.0000000000001249","DOIUrl":"10.1097/MBC.0000000000001249","url":null,"abstract":"<p><p>Glanzmann's Thrombasthenia (GT) is a rare hemorrhagic condition caused by a platelet surface receptor disorder of the glycoprotein (GP) IIb/IIIa. Symptoms of GT are various forms of hemorrhages, such as purpura, epistaxis and menorrhagia. Gastrointestinal bleeding (GIB) is a rare expression of the condition and may occur due to traumas in the GI tract or as a consequence of gastrointestinal angiodysplasia (GIADs). In this case report, we present a middle-aged woman with recurrent GIB consequent to GIADs with persistent melena and iron deficiency anemia. After several unsuccessful therapeutic interventions, the patient was studied by the hereditary hemorrhagic telangiectasia's (HHT - Osler-Weber-Rendu disease) unit, where she received bevacizumab, showing a complete improvement in symptoms as well as a reduction in her GIADs. This case shows that bevacizumab could be a possible line of treatment for patients with coagulation disorders with GIADs.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71520420","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":"Is dynamic change in mean platelet volume related with composite endpoint development after transcatheter aortic valve replacement?","authors":"Orhan Ince, Kamil Gulsen, Sevgi Ozcan, Esra Donmez, Murat Ziyrek, Irfan Sahin, Ertugrul Okuyan","doi":"10.1097/MBC.0000000000001255","DOIUrl":"10.1097/MBC.0000000000001255","url":null,"abstract":"<p><p>Aortic valve stenosis (AS) is the most common valvular disease, and surgical or transcatheter aortic valve replacement (TAVR) are the treatment options. Diminish in platelet production or dysfunction may occur due to shear stress, advanced age, and other coexisting diseases in AS patients. Bleeding is one of the complications of TAVR and associated with increased mortality. MPV (mean platelet volume) indicates platelet's thrombogenic activity. Overproduction or consumption of platelets in various cardiac conditions may affect MPV values. We aimed to investigate the pre and postprocedure MPV percentage change (MPV-PC) and its association with post-TAVR short-term complications. A total of 204 patients who underwent TAVR with a diagnosis of severe symptomatic AS were included. The mean age was 78.66 ± 6.45 years, and 49.5% of patients were women. Two groups generated according to composite end point (CEP) development: CEP(+) and CEP(-).110 patients(53.9%) formed CEP(+) group. Although baseline MPV and platelet levels were similar between groups, MPV was increased ( P  < 0.001) and platelet was decreased ( P  < 0.001) significantly following the procedure when compared to baseline. MPV-PC was significantly higher in the VARC type 2-4 bleeding ( P   =  0.036) and major vascular, access-related, or cardiac structural complication groups ( P   =  0.048) when CEP subgroups were analyzed individually. Regression analysis revealed that diabetes mellitus [ P   =  0.044, β: 1.806 odds ratio (95% confidence interval): 1.016-3.21] and MPV-PC [ P   =  0.007,β: 1.044 odds ratio (95% confidence interval): 1.012-1.077] as independent predictors of CEP development at 1 month after TAVR. The MPV increase following TAVR may be an indicator of adverse outcomes following TAVR procedure within 1-month.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41106383","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":"Epidemiological study of hereditary hemorrhagic disorders in Najaf province, Iraq.","authors":"Ezzate Hasson Ajeena, Ali Adil Saleem","doi":"10.1097/MBC.0000000000001263","DOIUrl":"10.1097/MBC.0000000000001263","url":null,"abstract":"<p><p>Hemophilia and Von Willbrand disease (VWD) are the most well known types of hereditary hemorrhagic disorders (HHD). Hemophilia affects about 200 000 people worldwide, while VWD affects about 80 000. Because there is a scarcity of epidemiologic studies on hemophilia in Iraq, this study was carried out to evaluate the prevalence and incidence trends, as well as to identify some clinical and epidemiological features of hemophilia patients in Najaf province, Iraq. This study was carried out in the Najaf's hemophilia center. The data were obtained by reviewing all patients' documents, as well as the center registration book from 2011 to 2021. In addition, the Ministry of Health provided relevant population data for Najaf. Notably, there are currently 214 patients registered in Najaf province. The results revealed that the severe form of hemophilia A was the permanent type of HHDs in the patients compared with the rest of the types that include HHD with no significant difference Pat least 0.05. The frequency of this group of disorders appeared to increase in the period between 2011 and 2013, especially in 2012 followed by a decline in the incidence until 2021, which recorded a sudden increase in these disorders. These findings highlight that hemophilia types A and B were the most prevalent disorders of HHD in Najaf province, and the increase in number of newly recorded cases because of consanguineous marriage increased recently in this area.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71520419","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":"Evaluation of acquired and hereditary risk factors for the development of thromboembolism in patients with systemic lupus erythematosus.","authors":"Vildan Gürsoy, Sevil Sadri, Selime Ermurat","doi":"10.1097/MBC.0000000000001253","DOIUrl":"10.1097/MBC.0000000000001253","url":null,"abstract":"<p><p>Although the contribution of antiphospholipid antibodies (aPL) to thrombolembolism in systemic lupus erythematosus (SLE) is well known, there is not enough data on the contribution of various hereditary thrombophilic factors. In this study, we aimed to determine acquired and hereditary thrombophilic factors in adult patients with SLE. A total of 93 SLE patients (87 women and 6 men) were included. Data on clinical, demographic and laboratory characteristics, and disease activity scores (SLEDAI) of the patients were evaluated. The patients were analyzed with a screen, including lupus anticoagulant, anticardiolipin antibodies (aCL), antithrombin III, protein C, protein S, and homocysteine levels; factor V Leiden ( FVL ), methylenetetrahydrofolate reductase ( MTHFR ) and prothrombin G20210A gene mutations. A total of 23 thromboembolic events were reported in 17 (18.3%) of the patients. The frequency of pregnancy complications and SLEDAI scores were significantly higher in SLE patients who had a thromboembolism event ( P  < 0.05). Thromboembolism was detected in 12 (32.4%) of 37 patients with positive aPL antibody and 5 (8.9%) of 56 patients with negative aPL antibody ( P  = 0.006). In addition, thromboembolism developed in 11 (32.3%) of 34 lupus anticoagulant-positive patients and 6 (10.1%) of 59 lupus anticoagulant-negative patients ( P  = 0.012). Moreover, protein C levels were significantly lower in patients who developed thromboembolism ( P  < 0.05). Patients with and without thromboembolism were similar in terms of genetic thrombophilia factors ( MTHFR A1298C, MTHFR C677T, FVL and Prothrombin G20210A ) ( P  > 0.05). In conclusion, in the current study, some acquired (aPL, lupus anticoagulant and cCL IGG) and hereditary (protein C deficiency) thrombophilic factors were shown to be associated with the development of thrombosis in SLE patients. However, the effect of other hereditary factors on the development of thromboembolism could not be demonstrated. According to the data of this study, genetic screening seems inappropriate in terms of the risk of thromboembolism in patients with SLE.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41104662","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":"Diagnosis and treatment of coagulopathy using thromboelastography with platelet mapping is associated with decreased risk of pulmonary failure in COVID-19 patients.","authors":"Tjasa Hranjec, Mackenzie Mayhew, Bradley Rogers, Rachele Solomon, Deborah Hurst, Michael Estreicher, Alberto Augusten, Aaron Nunez, Melissa Green, Shivali Malhotra, Randy Katz, Andrew Rosenthal, Sara Hennessy, Paul Pepe, Robert Sawyer, Juan Arenas","doi":"10.1097/MBC.0000000000001259","DOIUrl":"10.1097/MBC.0000000000001259","url":null,"abstract":"<p><strong>Introduction: </strong>Treatment of coronavirus disease 2019 (COVID-19) patients may require antithrombotic and/or anti-inflammatory medications. We hypothesized that individualized anticoagulant (AC) management, based on diagnosis of coagulopathy using thromboelastography with platelet mapping (TEG-PM), would decrease the frequency of pulmonary failure (PF) requiring mechanical ventilation (MV), mitigate thrombotic and hemorrhagic events, and, in-turn, reduce mortality.</p><p><strong>Methods: </strong>Hospital-admitted COVID-19 patients, age 18 or older, with escalating oxygen requirements were included. Prospective and supplemental retrospective chart reviews were conducted during a 2-month period. Patients were stratified into two groups based on clinician-administered AC treatment: TEG-PM guided vs. non-TEG guided.</p><p><strong>Results: </strong>Highly-elevated inflammatory markers (D-dimer, C-reactive protein, ferritin) were associated with poor prognosis but did not distinguish coagulopathic from noncoagulopathic patients. TEG-guided AC treatment was used in 145 patients vs. 227 treated without TEG-PM guidance. When managed by TEG-PM, patients had decreased frequency of PF requiring MV (45/145 [31%] vs. 152/227 [66.9%], P  < 0.0001), fewer thrombotic events (2[1.4%] vs. 39[17.2%], P  = 0.0019) and fewer hemorrhagic events (6[4.1%] vs. 24[10.7%], P  = 0.0240), and had markedly reduced mortality (43[29.7%] vs. 142[62.6%], P  < 0.0001). Platelet hyperactivity, indicating the need for antiplatelet medications, was identified in 75% of TEG-PM patients. When adjusted for confounders, empiric, indiscriminate AC treatment (not guided by TEG-PM) was shown to be an associated risk factor for PF requiring MV, while TEG-PM guided management was associated with a protective effect (odds ratio = 0.18, 95% confidence interval 0.08-0.4).</p><p><strong>Conclusions: </strong>Following COVID-19 diagnosis, AC therapies based on diagnosis of coagulopathy using TEG-PM were associated with significantly less respiratory decompensation, fewer thrombotic and hemorrhagic complications, and improved likelihood of survival.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41190293","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":"Fibrinogen Aα gene genotyping in patients with inherited afibrinogenemia deficiency; a novel mutation in Iranian afibrinogenemia patients.","authors":"Ali Moazzeni, Majid Naderi, Akbar Dorgalaleh, Shaban Alizadeh","doi":"10.1097/MBC.0000000000001260","DOIUrl":"10.1097/MBC.0000000000001260","url":null,"abstract":"<p><strong>Background: </strong>Congenital fibrinogen deficiencies (CFD) are a group of rare bleeding disorders (RBD). Afibrinogenemia as a subclass of these disorders would occurs as a result of mutations in fibrinogen gene. Here in, the sequences of Aα chain of fibrinogen (FGA) in patients with inherited afibrinogenemia disorder in south-eastern of Iran were analysed.</p><p><strong>Methods: </strong>The FGA gene exons were amplified using PCR method and the DNA sequences were analysed to study the mutations in Aα chain of Fibrinogen.</p><p><strong>Results: </strong>Results showed that there was no large deletion in FGA gene. Although a frame shift mutation: c.196_197insT p.Ser66PhefsX10 in a patient and a novel mutation of IVS2-1G>A in two other patients were detected which were different from those detected in European population.</p><p><strong>Conclusion: </strong>Different mutations are responsible of afibrinogenemia deficiency which requires more relevant studies for confirmation. The type and distribution of mutations in fibrinogen gene in Iranian patients is significantly different with reported mutations in European patients.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41190294","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":"Acquired bleeding disorders secondary to immune checkpoint inhibitors: a case report and systematic literature review.","authors":"William J Archibald, Peter A Kouides, Majed A Refaai, Neil A Lachant","doi":"10.1097/MBC.0000000000001244","DOIUrl":"10.1097/MBC.0000000000001244","url":null,"abstract":"<p><p>Acquired bleeding disorders because of an autoimmune phenomenon are rare events. Acquired von Willebrand disease (aVWD) has been estimated as having a prevalence of 400 per million in the general population. Acquired hemophilia A (AHA), the most common of the acquired hemophilias, has an estimated incidence of 1.3-1.5 cases per million per year. Immune checkpoint inhibitors (ICI) targeting PD-1, PD-L1, and CTLA-4 are being used with increasing frequency for hematologic and oncologic disorders. Acquired hemophilias and aVWD have been reported with the use of ICI therapy. We performed a systematic review of the literature to identify cases of acquired bleeding disorders with ICI therapy and contribute our own institution's experience with a case of AHA after pembrolizumab therapy. Six cases of AHA, one case of aVWD, and one case of factor V inhibitor were identified in the literature. Inhibitors were successfully eradicated in five of the eight cases identified. We propose that a centralized registry, possibly through the Scientific and Standardization Subcommittee on Plasma Coagulation Inhibitors through the International Society on Thrombosis and Hemostasis (ISTH), be developed to record treatment and outcomes of this rare ICI complication in order to prognosticate risk and better understand optimal treatment strategies.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10258706","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":"Quantifying time from last dose: do direct oral anticoagulant assays correlate with patient's reported last dose.","authors":"Brandon Stretton, Joshua Kovoor, Stephen Bacchi, Aashray Gupta, Suzanne Edwards, Jir Ping Boey, Samuel Gluck, Benjamin Reddi, Guy Maddern, Mark Boyd","doi":"10.1097/MBC.0000000000001254","DOIUrl":"10.1097/MBC.0000000000001254","url":null,"abstract":"<p><strong>Introduction: </strong>In the absence of a patient's last direct oral anticoagulant (DOAC) dose time, best practice regarding preoperative DOAC cessation remains unclear. The aim of this study was to investigate, in a real-life patient cohort, if there was an association between subjective patient recall and objective DOAC assay titre.</p><p><strong>Methods/materials: </strong>A multicentre cohort study of consecutive surgical inpatients was conducted. DOAC assays were 'expected' if they satisfied both time and titre-based guidelines.</p><p><strong>Results: </strong>Patient-recalled last dose and DOAC assay was available in 285 individuals. DOAC assay titres correlated strongly with the expected levels based on a patient's reported last dose time(rho = 0.70, P value < 0.0001). However, underweight (<50 kg; P  = 0.0339) and elderly (>80 years; P  = 0.0134) were more likely to have an unexpectedly high assay titre.</p><p><strong>Conclusions: </strong>A significant portion (∼25%) of patients had unexpected DOAC titres. DOAC levels can be clinically impactful in a significant percentage of patients, particularly in elderly and/or underweight.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41098818","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":"A study of fibrinolytic system components in donor groups depending on various titers of circulating anti-SARS-CoV-2 IgG in the bloodstream.","authors":"Antonina Rachkovska, Daryna Krenytska, Vitalii Karbovskyy, Nataliia Raksha, Tetiana Halenova, Tetiana Vovk, Olexii Savchuk, Liudmyla Ostapchenko","doi":"10.1097/MBC.0000000000001248","DOIUrl":"10.1097/MBC.0000000000001248","url":null,"abstract":"<p><p>The fibrinolytic system plays an important role in controlling blood coagulation at each stage, from thrombin generation to fibrin clot cleavage. Currently, long-term multiorgan dysfunction post-coronavirus disease 2019 (COVID-19) may include coagulation disorders. Little information is available about the potential causes of post-COVID-19 coagulopathy, but one of them may be subpopulation IgG produced by the immune system against SARS-CoV-2. This article describes the changes in the main parameters of the fibrinolytic system in donors with various titers of anti-SARS-CoV-2 IgG, which is part of a complex study of the hemostasis system in these donor groups. We determined the most significant parameters of the fibrinolytic system, such as potential activity and amount of plasminogen and tissue plasminogen activator (tPA), amount of plasminogen activator inhibitor-1 (PAI-1), inhibitory potentials of α-2-antiplasmin, α-1-antitrypsin, α-2-macroglobulin in the blood plasma of donor groups. The obtained results represent the maximum and minimum values of measurement parameters among donor groups with titers of anti-SARS-CoV-2 IgG at least 10 ± 3 Index (S/C), and their statistical differences from the reference point [donor group with titer of anti-SARS-CoV-2 IgG 0 Index (S/C)]. We established the changes in fibrinolytic parameters depending on the titers of anti-SARS-CoV-2 IgG. One conclusion can be drawn from this: anti-SARS-CoV-2 IgG population may influence coagulation in the post-COVID-19 period. Further research in-vitro and in-vivo experimental models using selected and purified IgG may confirm our previous findings.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10044843","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":"Diagnosis of Immunoglobulin G4-related disease in a child with ligneous conjunctivitis: a novel mutation in plasminogen gene and plasminogen activator inhibitor-1 polymorphism.","authors":"Melike Emiroğlu, Banu Bozkurt, Halil Haldun Emiroğlu, Mustafa Koplay, Nadir Koçak, Pinar Karabağli","doi":"10.1097/MBC.0000000000001246","DOIUrl":"10.1097/MBC.0000000000001246","url":null,"abstract":"<p><strong>Objectives: </strong>Ligneous conjunctivitis (LC) is a chronic conjunctivitis characterized by recurrent, firm, fibrin-rich, woody pseudomembranes on the palpebral conjunctiva. It is an ultrarare autosomal recessive disease associated with congenital plasminogen (PLG) deficiency due to mutations in the PLG gene (6q26). Immunoglobulin G4-related disease (IgG4-RD) is an idiopathic, systemic fibroinflammatory disease characterized by elevated serum IgG4 concentration and tissue infiltration of IgG4-positive plasma cells leading to organ enlargement, fibrosis and damage.</p><p><strong>Case report: </strong>A 7-year-old girl with LC was hospitalized for recurrent pancreatitis and diagnosed as IgG4-RD. PLG activity level was 15% (normal range 55-145%). Co-segregation analysis indicated that the patient was homozygous for the c. NG_016200.1(NM_000301.5):c.1465 T>C mutation in PLG gene. c. NG_016200.1(NM_000301.5):c.1465 T>C PLG variant was found to be heterozygous by NGS analysis in both parents. She also had plasminogen activator inhibitor - 1 (PAI-1) NG_013213.1(NM_000602.5):c.-816A>G (4G/4G) homozygous polymorphism and a heterozygote NG_001333.2 (NM_002769.5):c.292_293insC mutation in the serine protease 1 (PRSS-1) gene. However, heterozygous PRSS-1NG_001333.2 (NM_002769.5):c.292_293insC variant was found in the mother of the patient. All detected variants are currently considered as a variant of uncertain (or unknown) significance (VUS) according to the American College of Medical Genetics and Genomics (ACMG) classification. Oral steroid, oral azathioprine, topical fresh frozen plasma, topical heparin, topical steroid and topical cyclosporine were given. After 3 years of follow-up, IgG4-RD is under partial remission and no pseudomembranes.</p><p><strong>Conclusion: </strong>She is the second case had both LC and IgG4-RD. We identified a NG_016200.1(NM_000301.5):c.1465 T>C novel homozygous mutation in PLG gene and a PAI-1 NG_016200.1(NM_000301.5):c.1465 T>C (4G/4G) homozygous polymorphism, which has been reported as a risk factor for thrombotic events.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10343657","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}