{"doi":"10.1182/asheducation-2013.1.254","title":"von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy","abstract":"<jats:title>Abstract</jats:title>\n               <jats:p>von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder. The disease represents a range of quantitative and qualitative pathologies of the adhesive glycoprotein von Willebrand factor (VWF). The pathogenic mechanisms responsible for the type 2 qualitative variants of VWF are now well characterized, with most mutations representing missense substitutions influencing VWF multimer structure and interactions with platelet GPIbα and collagen and with factor VIII. The molecular pathology of type 3 VWD has been similarly well characterized, with an array of different mutation types producing either a null phenotype or the production of VWF that is not secreted. In contrast, the pathogenetic mechanisms responsible for type 1 VWD remain only partially resolved. In the hemostasis laboratory, the measurement of VWF:Ag and VWF:RCo are key components in the diagnostic algorithm for VWD, although the introduction of direct GPIbα-binding assays may become the functional assay of choice. Molecular genetic testing can provide additional benefit, but its utility is currently limited to type 2 and 3 VWD. The treatment of bleeding in VWD involves the use of desmopressin and plasma-derived VWF concentrates and a variety of adjunctive agents. Finally, a new recombinant VWF concentrate has just completed clinical trial evaluation and has demonstrated excellent hemostatic efficacy and safety.</jats:p>","journal":"Hematology","year":2013,"id":605500,"datarank":0.6456097639806255,"base_score":4.304065093204169,"endowment":4.304065093204169,"self_citation_contribution":0.6456097639806255,"citation_network_contribution":0.0,"self_endowment_contribution":0.6456097639806255,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":73,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":342830,"name":"David Lillicrap","orcid":"0000-0003-2410-6312","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy","abstract":"<jats:title>Abstract</jats:title>\n               <jats:p>von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder. The disease represents a range of quantitative and qualitative pathologies of the adhesive glycoprotein von Willebrand factor (VWF). The pathogenic mechanisms responsible for the type 2 qualitative variants of VWF are now well characterized, with most mutations representing missense substitutions influencing VWF multimer structure and interactions with platelet GPIbα and collagen and with factor VIII. The molecular pathology of type 3 VWD has been similarly well characterized, with an array of different mutation types producing either a null phenotype or the production of VWF that is not secreted. In contrast, the pathogenetic mechanisms responsible for type 1 VWD remain only partially resolved. In the hemostasis laboratory, the measurement of VWF:Ag and VWF:RCo are key components in the diagnostic algorithm for VWD, although the introduction of direct GPIbα-binding assays may become the functional assay of choice. Molecular genetic testing can provide additional benefit, but its utility is currently limited to type 2 and 3 VWD. The treatment of bleeding in VWD involves the use of desmopressin and plasma-derived VWF concentrates and a variety of adjunctive agents. Finally, a new recombinant VWF concentrate has just completed clinical trial evaluation and has demonstrated excellent hemostatic efficacy and safety.</jats:p>","is_dataset_classified":null,"base_score":4.304065093204169,"endowment":4.304065093204169,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"24319188","pmcid":null,"openalex_id":"https://openalex.org/W2119937857","authors":[],"funders":[{"funder_name":"Canadian Institutes of Health Research","grant_id":"","title":null},{"funder_name":"Canadian Institutes of Health Research","grant_id":"","title":null}],"total_grants":2,"fwci":5.3464,"citation_percentile":0.96540881,"influential_citations":0,"citation_trend":[{"year":2014,"count":9},{"year":2015,"count":12},{"year":2016,"count":8},{"year":2017,"count":2},{"year":2018,"count":10},{"year":2019,"count":8},{"year":2020,"count":7},{"year":2021,"count":5},{"year":2022,"count":4},{"year":2023,"count":2},{"year":2024,"count":1},{"year":2025,"count":4},{"year":2026,"count":1}],"oa_status":"closed","license":null,"oa_locations":[{"url":"http://ashpublications.org/hematology/article-pdf/2013/1/254/1249503/bep00113000254.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1182/asheducation-2013.1.254","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/24319188","host_type":"repository"}],"fields_of_study":["Platelet Disorders and Treatments","Autoimmune Bullous Skin Diseases","Blood groups and transfusion","Algorithms","Deamino Arginine Vasopressin","Hemostatics","Humans","Molecular Diagnostic Techniques","von Willebrand Disease, Type 2","von Willebrand Disease, Type 3","von Willebrand Factor"],"mesh_terms":["Algorithms","Deamino Arginine Vasopressin","Hemostatics","Humans","von Willebrand Factor","Molecular Diagnostic Techniques","von Willebrand Disease, Type 2","von Willebrand Disease, Type 3"],"keywords":["Von Willebrand factor","Von Willebrand disease","Desmopressin","Hemostasis","Missense mutation","Platelet disorder","Phenotype","Immunology","Medicine","Platelet","Genetics","Biology","Gene","Internal medicine"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-30T02:35:39.528052Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}