Blood Coagulation & Fibrinolysis最新文献

{"title":"Bleeding risk in hemophilia A and B carriers: comparison of factor levels determined using chronometric and chromogenic assays.","authors":"Delphine Chiffré-Rakotoarivony, Isabelle Diaz-Cau, Alexandre Ranc, Marie-Agnès Champiat, Florence Rousseau, Corinne Gournay-Garcia, Alexandre Théron, Robert Navarro, Pierre Boulot, Patricia Aguilar-Martinez, Pauline Sauguet, Christine Biron-Andréani","doi":"10.1097/MBC.0000000000001305","DOIUrl":"10.1097/MBC.0000000000001305","url":null,"abstract":"<p><strong>Background: </strong>Predicting the bleeding risk in hemophilia A and B carriers (HAC, HBC) is challenging.</p><p><strong>Objective: </strong>The objectives of this study were to describe the bleeding phenotype in HAC and HBC using the standardized Tosetto bleeding score (BS); to determine whether the BS correlates better with factor levels measured with a chromogenic assay than with factor levels measured with chronometric and thrombin generation assays; and to compare the results in HAC and HBC.</p><p><strong>Methods: </strong>This ambispective, noninterventional study included obligate and sporadic HAC and HBC followed at a hemophilia treatment center between 1995 and 2019.</p><p><strong>Results and conclusion: </strong>The median BS (3, range 0-21 vs. 3.5, range 0-15, P  = ns, respectively) and the abnormal BS rate (35.6% vs. 38.2%, P  = ns) were not significantly different in 104 HAC and 34 HBC (mean age: 38 years, 6-80 years). However, some differences were identified. The risk of factor deficiency was higher in HBC than HAC. Specifically, Factor VIII activity (FVIII):C/Factor IX activity (FIX):C level was low (<40 IU/dl) in 18.3% (chronometric assay) and 17.5% (chromogenic assay) of HAC and in 47% and 72.2% of HBC ( P  < 0.001). Moreover, the FIX:C level thresholds of 39.5 IU/dl (chronometric assay) and of 33.5 IU/dl (chromogenic assay) were associated with very good sensitivity (92% and 100%, respectively) and specificity (80% for both) for bleeding risk prediction in HBC. Conversely, no FVIII:C level threshold could be identified for HAC, probably due to FVIII:C level variations throughout life.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140851005","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":"Concurrent congenital hemophilia B and acquired hemophilia A: a unique case report.","authors":"Salih Cirik, Mehmet Ali Erkurt, İrfan Kuku, Emin Kaya, İlhami Berber, Emine Hidayet, Soykan Biçim, Ahmet Kaya, Süleyman Arslan, Ayşe Günay","doi":"10.1097/MBC.0000000000001306","DOIUrl":"10.1097/MBC.0000000000001306","url":null,"abstract":"<p><p>Congenital hemophilia B is a rare X-linked recessive bleeding disorder caused by factor IX deficiency. Acquired hemophilia A is a rare, acquired bleeding disorder that presents with new-onset bleeding, especially in older adults, due to the development of auto-antibodies against factor VIII (FVIII). This case report presents the medical management of a patient with congenital hemophilia B and acquired hemophilia A. We highlight the limitations of maintaining factor levels with factor replacement therapy alone, particularly in hemophilia patients who have developed factor inhibitors. In addition, we draw attention to the need for dose escalation, the cost, and the need for immune-tolerance induction therapy. This case illustrates that when the current diagnosis does not explain the full clinical picture and laboratory data are inadequate, it is important to continue to seek alternative diagnoses and cost-effective treatment.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140852668","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":"Poisoning by butylated hydroxytoluene quinone methide acting as a superwarfarin: first reported case in humans.","authors":"Fehmi Hindilerden, Elif Aksoy, Asli Yüksel Öztürkmen, Gamze Türker, Emine Gültürk, Veysel Sabri Hançer, Selda Mercan","doi":"10.1097/MBC.0000000000001307","DOIUrl":"10.1097/MBC.0000000000001307","url":null,"abstract":"<p><p>Superwarfarins are anticoagulant rodenticides nearly 100-fold potent than the parent compound. Since their development, accidental and intentional cases of superwarfarin poisoning have been reported. We report the first human case of poisoning by butylated hydroxytoluene (BHT) quinone methide acting as a superwarfarin otherwise reported to be a well tolerated food additive and preservative and used as an antioxidant, stabilizer, anti-skinning agent in various industries. We aim to highlight the possible underlying cause of this previously unreported and potentially lethal BHT-related complication in the human.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554161","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":"Clinical and economic implications of false-positive heparin-induced thrombocytopenia immunoassays: utility of the 4T score.","authors":"Bradley Dweck, Mallory Pane, Veronica Nguyen, Shalini Sharma, Alec Monhollen, Sankirthana Malireddy, Andrew Whiteley","doi":"10.1097/MBC.0000000000001314","DOIUrl":"10.1097/MBC.0000000000001314","url":null,"abstract":"<p><p>Heparin-induced thrombocytopenia (HIT) is a prothrombotic condition induced by platelet-activating IgG antibodies that recognize PF4/heparin complexes. Diagnosis of HIT relies on enzyme immunologic assays (EIAs) and functional assays [serotonin release assay (SRA)]. Our institution uses a latex immunoturbidimetric assay (LIA), which has shown a positive-predictive value (PPV) of 55.6%, and a negative-predictive value (NPV) of 99.7%. The low PPV of EIAs/LIAs, in combination with the clinical delay in obtaining results of a SRA, commonly leads to a false-positive diagnosis of HIT and inappropriate treatment. We performed a single-institution retrospective study at a large tertiary center to assess patient management decisions and economic costs following a false-positive HIT (LIA) test. This study found an 89.5% incidence of false-positive HIT (LIA) tests. 97.4% of patients underwent anticoagulation changes. 69.6% of patients were switched to argatroban. Of patients with a false-positive HIT immunoassay (LIA), 42 (40.7%) patients were on a prophylactic dose of anticoagulation at the time of HIT (LIA) positivity, of which 22 (52.4%) were switched to full anticoagulation with either argatroban or fondaparinux. Of the 22 patients switched to full anticoagulation, 15 (68%) had low-probability 4T scores. Seven (8.8%) of patients had bleeding events after HIT (LIA) positivity. All seven patients were switched to argatroban from a full-dose heparin anticoagulation. Five of the seven patients were considered major bleeds. Utilization of argatroban incurred substantial costs, estimated at approximately $73 000 for false-positive HIT cases. False-positive HIT (LIA) tests contribute to unwarranted anticoagulation changes, increased bleeding risks, and substantial healthcare costs. Incorporating the 4T score into diagnostic algorithms may help mitigate these risks by guiding appropriate clinical decisions. Future research should focus on refining diagnostic approaches and standardizing management strategies to improve patient outcomes and cost-effectiveness in HIT diagnosis and management.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141316657","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":"Rituximab as a treatment for refractory immune thrombocytopenia during pregnancy.","authors":"Maria I Sousa, António C Braga, Graça C Buchner, Jorge S Braga","doi":"10.1097/MBC.0000000000001312","DOIUrl":"10.1097/MBC.0000000000001312","url":null,"abstract":"<p><p>Immune thrombocytopenia (ITP) is most common in women during their reproductive years. When a low platelet count occurs for the first time during pregnancy, the differential diagnosis includes pregnancy-specific conditions. Although ITP is the most common cause of thrombocytopenia early in pregnancy, pregnancy-related thrombocytopenia develops mainly in late gestation. As maternal and neonatal outcomes are usually favourable, ITP per se is not a contraindication for pregnancy. We report the case with a literature review of patient with ITP, whose diagnosis was established in early pregnancy. This condition was refractory to first-line treatments, such as high-dose steroids and intravenous immunoglobulin and other splenectomy-sparing approaches, as rituximab, having the control been reached on the third trimester after splenectomy. Although not effective in this case, we still believe that rituximab should be considered before surgery during pregnancy.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554162","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 factor XIII deficiency and its unprecedented association with multiple myeloma: case report and literature review.","authors":"Balkis Trabelsi, Hela Baccouche, Jannet Eddhib, Aya Chakroun, Mahjoub Sonia","doi":"10.1097/MBC.0000000000001311","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001311","url":null,"abstract":"<p><p>This case involves a 58-year-old patient, with no personal or family history of bleeding, diagnosed with stage III-A IgG Kappa multiple myeloma in 2016 and underwent autografting in 2017. In March 2022, he suffered a myeloma relapse. In October 2022, the patient presented with a large spontaneous compressive hematoma in the left shoulder and hemithorax, requiring two surgical procedures. The platelet count and hemostasis parameters were within normal range. Further diagnostic testing revealed acquired factor XIII deficiency and acquired thrombopathy. Diagnostic challenges arose from the absence of specific assays for the B subunit of Factor XIII. Treatment involved transfusions and corticosteroids, but efficacity was limited. The patient's response to chemotherapy raised questions about the involvement of the monoclonal component. Subsequent follow-ups showed factor XIII levels fluctuating, even without symptoms. The patient was deemed ineligible for autograft due to a significant risk of hemorrhage.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554158","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":"To do or not to do mixing study in the era of integrated testing for lupus anticoagulant.","authors":"Debadrita Ray, Jasmina Ahluwalia, Chander Hans, Anita Kler, Azaad Kumar, Narender Kumar","doi":"10.1097/MBC.0000000000001304","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001304","url":null,"abstract":"","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140849016","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":"How complicated can be a case with immune thrombocytopenic purpura?: postsplenectomy arterial thrombosis.","authors":"Ahmet Deniz Kaya, Oguzhan Tekin, Yasin Colak, Istemi Serin","doi":"10.1097/MBC.0000000000001290","DOIUrl":"10.1097/MBC.0000000000001290","url":null,"abstract":"<p><p>Arterial thrombus associated with the surgery can be seen in postsplenectomy cases, but there is no clear data in patients diagnosed with immune thrombocytopenic purpura (ITP). A 52-year-old female patient was admitted to the emergency department due to ecchymotic skin changes. Her initial platelet count was 6000/mm 3 ; after two courses of high dose-dexamethasone, intravenous immunoglobulin and rituximab, splenectomy was planned for the patient whose platelet count was again <40 000/mm 3 . She presented to the emergency department with complaints of pain and pallor in the right arm in the second week of follow-up. There was a mural thrombus that caused approximately 50% stenosis in the lumen at the division site in the aortic arch, proximal of the right subclavian artery. The patient's clinic was found to be associated with the presence of an aberrant right subclavian artery and postoperative thrombocytosis/inflammation after elimination other prothrombotic conditions.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139970910","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":"Homozygous MTHFR C677T carriers develop idiopathic portal vein thrombosis 20 years earlier than wild type.","authors":"Paul Rj Ames, Giovanna D'Andrea, Alessia Arcaro, Vincenzo Marottoli, Luigi Iannaccone, Maurizio Margaglione, Fabrizio Gentile","doi":"10.1097/MBC.0000000000001299","DOIUrl":"10.1097/MBC.0000000000001299","url":null,"abstract":"<p><p>The aim of this study was to evaluate the impact of methylene tetrahydrofolate reductase (MTHFR) rs1801133 (C→T667 transition) on age at first idiopathic portal vein thrombosis (PVT) and to identify clinical and/or laboratory variables influencing age at first PVT, including plasma homocysteine and the prothrombin rs1799963 PT (G→A transition at position 20210) (PT) mutation. A retrospective cross-sectional cohort, including 15 MTHFR TT, 32 MTHFR TC and 22 MTHFR CC idiopathic PVT participants contributing demographics, age at PVT, plasma concentrations of homocysteine and of natural anticoagulants. MTHFR TT carriers presented with a lower age at PVT than heterozygous or wild-type genotypes (31 ± 8 vs. 48 ± 15 vs. 52 ± 13 years, P  = 0.001) and were more likely to have a plasma HC concentration above the cut-off (73.3 vs. 32 vs. 50%, P  = 0.04). MTHFR TT and protein C predicted age at PVT ( P  < 0.0001 and P  = 0.06); MTHFR TT predicted plasma homocysteine ( P  = 0.05). In the MTHFR TT group, plasma homocysteine inversely related to protein C ( P  = 0.03). Plasma homocysteine predicted the extent of PVT ( P  = 0.03). Compound MTHFR TT + PT GA did not lower age at first PVT compared to MTHFR TT alone (35 ± 9 vs. 30 ± 8 years). MTHFR TT is associated with a 20-year earlier PVT presentation than heterozygous and wild-type MTHFR genotypes. The inverse relation between plasma homocysteine and protein C contributes to the prematurity of PVT in the MTHFR TT group, whereas plasma homocysteine contributes to the extent of PVT. The recent exclusion of MTHFR genotyping from the thrombophilia screen needs revisiting in this setting.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140288107","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":"Clinical study reveals the efficacy of sirolimus in treating primary immune thrombocytopenia: findings from a single-center study.","authors":"Yaqing Feng, Haitao Meng, Caiqin Mu, Yanfang Zhang, Xi Liu, Yaqun Shi, Hongjin Wang","doi":"10.1097/MBC.0000000000001303","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001303","url":null,"abstract":"<p><p>Immune thrombocytopenia (ITP) is an autoimmune disease that arises because of self-destruction of circulating platelets. The mechanism remains complicated and lacks a standard clinical treatment. Current first-line and second-line medications for ITP have shown limited effectiveness, necessitating the exploration of new therapeutic options. Sirolimus is a mammalian target of rapamycin (mTOR) inhibitor that has been demonstrated to inhibit lymphocyte activity, indicating potential for SRL in the treatment of ITP. This study aimed to evaluate the clinical efficacy of sirolimus as a second-line drug in patients with ITP. The starting dose of sirolimus for adults ranged from 2 to 4 mg/day, with a maintenance dose of 1 to 2 mg/day. For children, the starting dose was 1-2 mg/day, with a maintenance dose of 0.5-1 mg/day. The dosage could be adjusted if needed to maintain a specific blood concentration of sirolimus, typically between 5 and 15 ng/ml, throughout the treatment period. After 3 months, the overall response rate was 60% (12/20), with 30% of patients (6/20) achieving a complete response (CR) and 30% (6/20) achieving a partial response (PR). The CR rate at 6 months remained consistent with the 3-month assessment. No major adverse events were reported, indicating that sirolimus was well tolerated and safe. Analysis of peripheral blood Treg cell percentages in both the control and ITP showed no significant difference before treatment. The percentage of Treg cells increased after treatment with sirolimus, suggesting that sirolimus increases Treg cells. These findings suggest that sirolimus serves as an effective second-line treatment option for ITP, demonstrating favorable clinical efficacy.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11064898/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140848764","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}