Expert Review of Hematology最新文献_第8页

The evolving management algorithm for the patient with newly diagnosed cold agglutinin disease. 针对新诊断出的冷凝集素病患者的管理算法不断发展。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2024-07-01 Epub Date: 2024-06-13 DOI: 10.1080/17474086.2024.2366540

Wilma Barcellini, Bruno Fattizzo

{"title":"The evolving management algorithm for the patient with newly diagnosed cold agglutinin disease.","authors":"Wilma Barcellini, Bruno Fattizzo","doi":"10.1080/17474086.2024.2366540","DOIUrl":"10.1080/17474086.2024.2366540","url":null,"abstract":"Introduction: Cold agglutinin disease (CAD) is driven by IgM autoantibodies reactive at <37°C and able to fix complement. The activation of the classical complement pathway leads to C3-mediated extravascular hemolysis in the liver and to intravascular hemolytic crises in case of complement amplifying conditions. C3 positivity at direct Coombs test along with high titer agglutins are required for the diagnosis. Treatment is less standardized.Areas covered: This review recapitulates CAD diagnosis and then focus on the evolving management of the disease. Both current approach and novel targeted drugs are discussed. Literature search was conducted in PubMed and Scopus from 2000 to 2024 using 'CAD' and 'autoimmune hemolytic anemia' as keywords.Expert opinion: Rituximab represents the frontline approach in patients with symptomatic anemia or disabling cold-induced peripheral symptoms and is effective in 50-60% of cases. Refractory/relapsing patients are an unmet need and may now benefit from complement inhibitors, particularly the anti-C1s sutimlimab, effective in controlling hemolysis thus improving anemia in >80% of patients, but not active on cold-induced peripheral symptoms. Novel drugs include long-acting complement inhibitors, plasma cells, and B-cell targeting agents (proteasome inhibitors, anti-CD38, BTKi, PI3Ki, anti-BAFF). Combination therapy may be the future answer to CAD unmet needs.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"287-294"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141316963","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}

引用次数: 0

Anti-BCMA CAR-T cell-based therapies and bispecific antibodies in the immunotherapy era: are we ready for this? 免疫疗法时代的抗BCMA CAR-T细胞疗法和双特异性抗体：我们准备好了吗？

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2024-07-01 Epub Date: 2024-05-21 DOI: 10.1080/17474086.2024.2357274

Massimo Martino, Barbara Gamberi, Elisabetta Antonioli, Sara Aquino, Roberta Della Pepa, Lara Malerba, Silvia Mangiacavalli, Sara Pezzatti, Sara Bringhen, Elena Zamagni

{"title":"Anti-BCMA CAR-T cell-based therapies and bispecific antibodies in the immunotherapy era: are we ready for this?","authors":"Massimo Martino, Barbara Gamberi, Elisabetta Antonioli, Sara Aquino, Roberta Della Pepa, Lara Malerba, Silvia Mangiacavalli, Sara Pezzatti, Sara Bringhen, Elena Zamagni","doi":"10.1080/17474086.2024.2357274","DOIUrl":"10.1080/17474086.2024.2357274","url":null,"abstract":"Introduction: Therapeutic strategies against multiple myeloma (MM) have evolved dramatically in recent decades, with unprecedent results in the treatment landscape, culminating in the recent incorporation of novel agents in the anti-myeloma armamentarium.Areas covered: BCMA represents one of the most promising targets in MM and currently available immune approaches, either approved or under active investigation, are clearly showing their greater potential over standard regimens. In this context, immunotherapies based on chimeric antigen receptor (CAR)-engineered T-cells and bispecific antibodies (BsAbs) have taken center stage, being the ones that are yielding the most promising results in clinical trials. This review focuses on the current landscape of BsAbs and CAR-T, summarizing the latest advances and possible future developments.Expert opinion: CAR-T and BsAbs anti-BCMA strategies represent breakthrough therapies against MM. However, their inclusion in clinical practice is almost feared, due to the associated limitations, some of which have been addressed here. Meanwhile, all the efforts should be focused on individualizing and choosing the most suitable candidates for each treatment and to understand how to combine, or sequence, these therapies to improve efficacy and minimize toxicity, especially for those patients with limited available treatment options.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"375-390"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141070689","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}

引用次数: 0

Defining treatment success in chronic lymphocytic leukemia: exploring surrogate markers, comorbidities, and patient-centered endpoints. 慢性淋巴细胞白血病治疗成功的定义：探索替代标记物、合并症和以患者为中心的终点。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2024-07-01 Epub Date: 2024-06-13 DOI: 10.1080/17474086.2024.2366534

Stefano Molica

{"title":"Defining treatment success in chronic lymphocytic leukemia: exploring surrogate markers, comorbidities, and patient-centered endpoints.","authors":"Stefano Molica","doi":"10.1080/17474086.2024.2366534","DOIUrl":"10.1080/17474086.2024.2366534","url":null,"abstract":"Introduction: Traditionally, the success of chronic lymphocytic leukemia (CLL) treatment has been primarily assessed based on clinical outcomes, such as disease response, progression-free survival (PFS), and overall survival (OS). However, the evolution of treatment approaches recognizes the importance of a patient-centered perspective that includes factors directly affecting patients' quality of life and overall well-being.Areas covered: Studies addressing the impact of targeted agents on improving either OS or other endpoint surrogates were selected using PubMed and MEDLINE platforms. Our search also included studies that considered patient-centric endpoints such as health-related quality of life and patient-reported outcomes (PROs).Expert opinion: The changing landscape of CLL treatment underscores the importance of continually exploring various endpoints to thoroughly define treatment success. Beyond conventional metrics such as OS and surrogate endpoints, namely, PFS, time to next treatment (TTNT), and measurable residual disease (MRD) assessment, it becomes crucial to integrate enhanced comorbidity evaluations and patient-centered viewpoints into a CLL success roadmap.Subsequent investigations ought to concentrate on enhancing current surrogate endpoints, discerning their contextual significance, and exploring innovative indicators of treatment efficacy and safety. Given the dynamic nature of CLL and the heterogeneity among patient groups, personalized strategies are essential, taking into account individual traits and patient preferences.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"279-285"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141295893","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}

引用次数: 0

Outcome measures in hemophilia: current and future perspectives. 血友病的疗效测量：当前和未来展望。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2024-07-01 Epub Date: 2024-06-19 DOI: 10.1080/17474086.2024.2365929

Silvia Benemei, Luca Boni, Giancarlo Castaman

{"title":"Outcome measures in hemophilia: current and future perspectives.","authors":"Silvia Benemei, Luca Boni, Giancarlo Castaman","doi":"10.1080/17474086.2024.2365929","DOIUrl":"10.1080/17474086.2024.2365929","url":null,"abstract":"Introduction: Hemophilia can detrimentally affect patients' quality of life and likelihood of survival. In the evolving landscape of therapies, the therapeutic gain of each treatment must be understood to accurately position it in the therapeutic armamentarium. Accordingly, appropriate outcomes must be measured with appropriate tools.Areas covered: Our narrative review (PubMed search for 'hemophilia AND outcome' until June 2023), provides a compendium of outcome measures used in hemophilia clinical research. To define each outcome measure's relative value and applicability, several characteristics are critically discussed.Expert opinion: Bleeding assessment, first annual/annualized bleeding rate, remains central in evaluating the efficacy and safety of hemophilia treatments. As modern therapies improve clinical outcomes toward zero bleeding events, this endpoint may become less sensitive to detect differences between therapeutic approaches. Technological advancements necessitate the adaptation of outcome measures to address infrequent bleeding events, age-related comorbidities, and laboratory parameters with limited comparability after different treatments. Considerable effort has been dedicated to the development of tools that comprehensively assess coagulation, such as thrombin generation assays. Patient-reported outcome measures are gaining importance although limited by their subjectivity. A definitive set of research outcome measures remains elusive. Outcomes may need to be tailored to different therapeutic interventions.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"329-340"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141305745","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}

引用次数: 0

T-cell exhaustion in multiple myeloma. 多发性骨髓瘤的 T 细胞衰竭。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2024-07-01 Epub Date: 2024-06-26 DOI: 10.1080/17474086.2024.2370552

Krzysztof Żyłka, Tadeusz Kubicki, Lidia Gil, Dominik Dytfeld

{"title":"T-cell exhaustion in multiple myeloma.","authors":"Krzysztof Żyłka, Tadeusz Kubicki, Lidia Gil, Dominik Dytfeld","doi":"10.1080/17474086.2024.2370552","DOIUrl":"10.1080/17474086.2024.2370552","url":null,"abstract":"Introduction: Chimeric Antigen Receptor (CAR) T-cells and Bispecific Antibodies (BsAb) are the leading platforms for redirecting the immune system against cells expressing the specific antigen, revolutionizing the treatment of hematological malignancies, including multiple myeloma (MM). In MM, drug-resistant relapses are the main therapy-limiting factor and the leading cause of why the disease is still considered incurable. T-cell-engaging therapies hold promise in improving the treatment of MM. However, the effectiveness of these treatments may be hindered by T-cell fitness. T-cell exhaustion is a condition of a gradual decline in effector function, reduced cytokine secretion, and increased expression of inhibitory receptors due to chronic antigen stimulation.Areas covered: This review examines findings about T-cell exhaustion in MM in the context of T-cell redirecting BsAbs and CAR-T treatment.Expert opinion: The fitness of T-cells has become an important factor in the development of T-cell redirecting therapies. The way T-cell exhaustion relates to these therapies could affect the further development of CAR and BsAbs technologies, as well as the strategies used for clinical use. Therefore, this review aims to explore the current understanding of T-cell exhaustion in MM and its relationship to these therapies.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"295-312"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141450218","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}

引用次数: 0

Novel mechanisms of action of emerging therapies of hereditary thrombotic thrombocytopenic purpura. 遗传性血栓性血小板减少性紫癜新兴疗法的新作用机制。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2024-07-01 Epub Date: 2024-05-20 DOI: 10.1080/17474086.2024.2356763

X Long Zheng

{"title":"Novel mechanisms of action of emerging therapies of hereditary thrombotic thrombocytopenic purpura.","authors":"X Long Zheng","doi":"10.1080/17474086.2024.2356763","DOIUrl":"10.1080/17474086.2024.2356763","url":null,"abstract":"Introduction: Hereditary thrombotic thrombocytopenic purpura (hTTP) is caused by deficiency of plasma ADAMTS13 activity, resulting from ADAMTS13 mutations. ADAMTS13 cleaves ultra large von Willebrand factor (VWF), thus reducing its multimer sizes. Hereditary deficiency of plasma ADAMTS13 activity leads to the formation of excessive platelet-VWF aggregates in small arterioles and capillaries, resulting in hTTP.Areas covered: PubMed search from 1956 to 2024 using thrombotic thrombocytopenic purpura and therapy identified 3,675 articles. Only the articles relevant to the topic were selected for discussion, which focuses on pathophysiology, clinical presentations, and mechanisms of action of emerging therapeutics for hTTP. Current therapies include infusion of plasma, or coagulation factor VIII, or recombinant ADAMTS13. Emerging therapies include anti-VWF A1 aptamers or nanobody and gene therapies with adeno-associated viral vector or self-inactivated lentiviral vector or a sleeping beauty transposon system for a long-term expression of a functional ADAMTS13 enzyme.Expert opinion: Frequent plasma infusion remains to be the standard of care in most parts of the world, while recombinant ADAMTS13 has become the treatment of choice for hTTP in some of the Western countries. The success of gene therapies in preclinical models may hold a promise for future development of these novel approaches for a cure of hTTP.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"341-351"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11209763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944736","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}

引用次数: 0

Screening and interventional strategies for the late effects and toxicities of hematological malignancy treatments in pediatric survivors. 针对小儿血液恶性肿瘤治疗的晚期效应和毒性的筛查和干预策略。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2024-07-01 Epub Date: 2024-06-25 DOI: 10.1080/17474086.2024.2370559

Kazuo Sakashita, Kazutoshi Komori, Hirokazu Morokawa, Takashi Kurata

{"title":"Screening and interventional strategies for the late effects and toxicities of hematological malignancy treatments in pediatric survivors.","authors":"Kazuo Sakashita, Kazutoshi Komori, Hirokazu Morokawa, Takashi Kurata","doi":"10.1080/17474086.2024.2370559","DOIUrl":"10.1080/17474086.2024.2370559","url":null,"abstract":"Introduction: Advancements in pediatric cancer treatment have increased patient survival rates; however, childhood cancer survivors may face long-term health challenges due to treatment-related effects on organs. Regular post-treatment surveillance and early intervention are crucial for improving the survivors' quality of life and long-term health outcomes. The present paper highlights the significance of late effects in childhood cancer survivors, particularly those with hematologic malignancies, stressing the importance of a vigilant follow-up approach to ensure better overall well-being.Areas covered: This article provides an overview of the treatment history of childhood leukemia and lymphoma as well as outlines the emerging late effects of treatments. We discuss the various types of these complications and their corresponding risk factors.Expert opinion: Standardizing survivorship care in pediatric cancer aims to improve patient well-being by optimizing their health outcomes and quality of life. This involves early identification and intervention of late effects, requiring collaboration among specialists, nurses, and advocates, and emphasizing data sharing and international cooperation.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"313-327"},"PeriodicalIF":2.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141426633","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}

引用次数: 0

The potential of triplet combination therapies for patients with FLT3-ITD -mutated acute myeloid leukemia. 三联疗法治疗 FLT3-ITD 突变急性髓性白血病患者的潜力。

IF 2.8 4区医学

Expert Review of Hematology Pub Date : 2024-06-01 Epub Date: 2024-05-20 DOI: 10.1080/17474086.2024.2356258

Antonella Bruzzese, Ernesto Vigna, Enrica Antonia Martino, Caterina Labanca, Francesco Mendicino, Eugenio Lucia, Virginia Olivito, Gaia Stanzione, Annamaria Zimbo, Elisabetta Lugli, Antonino Neri, Fortunato Morabito, Massimo Gentile

{"title":"The potential of triplet combination therapies for patients with FLT3-ITD -mutated acute myeloid leukemia.","authors":"Antonella Bruzzese, Ernesto Vigna, Enrica Antonia Martino, Caterina Labanca, Francesco Mendicino, Eugenio Lucia, Virginia Olivito, Gaia Stanzione, Annamaria Zimbo, Elisabetta Lugli, Antonino Neri, Fortunato Morabito, Massimo Gentile","doi":"10.1080/17474086.2024.2356258","DOIUrl":"10.1080/17474086.2024.2356258","url":null,"abstract":"Introduction: Acute myeloid leukemia (AML) encompasses a heterogeneous group of aggressive myeloid malignancies, where FMS-like tyrosine kinase 3 (FLT3) mutations are prevalent, accounting for approximately 25-30% of adult patients. The presence of this mutation is related to a dismal prognosis and high relapse rates. In the lasts years many FLT3 inhibitors have been developed.Areas covered: This review provides a comprehensive overview of FLT3mut AML, summarizing the state of art of current treatment and available data about combination strategies including an FLT3 inhibitor.Expert opinion: In addition, the review discusses the emergence of drug resistance and the need for a nuanced approaches in treating patients who are ineligible for or resistant to intensive chemotherapy. Specifically, it explores the historical context of FLT3 inhibitors (FLT3Is) and their impact on treatment outcomes, emphasizing the pivotal role of midostaurin, as well as gilteritinib and quizartinib, and providing detailed insights into ongoing trials exploring the safety and efficacy of novel triplet combinations involving FLT3Is in different AML settings.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"241-253"},"PeriodicalIF":2.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140921394","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}

引用次数: 0

Evaluating zanubrutinib for the treatment of adults with chronic lymphocytic leukemia or small lymphocytic lymphoma. 评估扎努布替尼治疗成人慢性淋巴细胞白血病或小淋巴细胞淋巴瘤的疗效。

IF 2.3 4区医学

Expert Review of Hematology Pub Date : 2024-06-01 Epub Date: 2024-05-24 DOI: 10.1080/17474086.2024.2356257

Nathalie Javidi-Sharifi, Jennifer R Brown

{"title":"Evaluating zanubrutinib for the treatment of adults with chronic lymphocytic leukemia or small lymphocytic lymphoma.","authors":"Nathalie Javidi-Sharifi, Jennifer R Brown","doi":"10.1080/17474086.2024.2356257","DOIUrl":"10.1080/17474086.2024.2356257","url":null,"abstract":"Introduction: This review evaluates zanubrutinib as a treatment option for adults with chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). Zanubrutinib, a covalent BTK (Bruton's tyrosine kinase) inhibitor, was recently approved by the US FDA based in part on head-to-head data demonstrating improved efficacy and safety compared to ibrutinib.Areas covered: The review discusses the efficacy, safety, and comparative advantages of zanubrutinib, highlighting its safety profile compared to other BTK inhibitors. It also addresses the unmet needs of current therapies in CLL/SLL and provides an overview of competitor compounds and ongoing research in BTK inhibition.Expert opinion: Zanubrutinib, the first BTK inhibitor to demonstrate superior efficacy and safety compared to another BTK inhibitor in CLL, is likely to be widely adopted due to its high-quality data and ease of use. Looking ahead, pirtobrutinib, a novel non-covalent BTK inhibitor, has shown promise in heavily pretreated CLL patients, including those unresponsive to covalent inhibitors, with ongoing phase 3 trials comparing it against ibrutinib. The field is also exploring time-limited therapies like the combination of ibrutinib and venetoclax, with ongoing trials evaluating different combinations to optimize efficacy and minimize toxicity, indicating a promising future for combination therapies in CLL treatment.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"201-210"},"PeriodicalIF":2.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141086971","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}

引用次数: 0

Early diagnosis of persons with von Willebrand disease using a machine learning algorithm and real-world data. 利用机器学习算法和真实世界数据早期诊断 von Willebrand 疾病患者。

IF 2.8 4区医学

Expert Review of Hematology Pub Date : 2024-06-01 Epub Date: 2024-05-24 DOI: 10.1080/17474086.2024.2354925

Robert F Sidonio, Anan Lu, Sarah Hale, Jorge Caicedo, Mike Bullano, Shan Xing

{"title":"Early diagnosis of persons with von Willebrand disease using a machine learning algorithm and real-world data.","authors":"Robert F Sidonio, Anan Lu, Sarah Hale, Jorge Caicedo, Mike Bullano, Shan Xing","doi":"10.1080/17474086.2024.2354925","DOIUrl":"10.1080/17474086.2024.2354925","url":null,"abstract":"Background: Von Willebrand disease (VWD) is underdiagnosed, often delaying treatment. VWD claims coding is limited and includes no severity qualifiers; improved identification methods for VWD are needed. The aim of this study is to identify and characterize undiagnosed symptomatic persons with VWD in the US from medical insurance claims using predictive machine learning (ML) models.Research design and methods: Diagnosed and potentially undiagnosed VWD cohorts were defined using Komodo longitudinal US claims data (January 2015-March 2020). ML models were built using key characteristics predictive of VWD diagnosis from the diagnosed cohort. Two ML models predicted VWD diagnosis with the highest accuracy in females (random forest; 84%) and males (gradient boosting machine; 85%). Undiagnosed persons suspected to have VWD were identified using an 80% cutoff probability; profiles of key characteristics were constructed.Results: The trained ML models were applied to the undiagnosed cohort (28,463 females; 20,439 males) with suspected VWD. Fifty-two percent of undiagnosed females had heavy menstrual bleeding, a key pre-diagnosis symptom. Undiagnosed males tended to have more frequent medical procedures, hospitalizations, and emergency room visits compared with undiagnosed females.Conclusions: ML algorithms successfully identified potentially undiagnosed symptomatic people with VWD, although many may remain undiagnosed and undertreated. External validation of the algorithms is recommended.","PeriodicalId":12325,"journal":{"name":"Expert Review of Hematology","volume":" ","pages":"261-268"},"PeriodicalIF":2.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141081101","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}

引用次数: 0