ArticleBlood advances2022
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Article in Blood advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 27 citations in OpenAlex.
- Clinical and Laboratory Characterization of Acquired Von Willebrand Syndrome.American journal of hematology · 2026Article
- Persistent Gingival Bleeding After Scaling: A Diagnostic Clue to von Willebrand Disease.Clinical case reports · 2026Article
- Biology of von Willebrand disease.Blood advances · 2026Review
- Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.Haematologica · 2026Article
- Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.Thrombosis and haemostasis · 2026Article
- Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.Scientific reports · 2026Article
- Molecular genetic testing in von Willebrand disease: past, present, and beyond.Haematologica · 2026Review
- Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations.Research and practice in thrombosis and haemostasis · 2025Article
- Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro-Caribbeans: Results From a Study in Martinique Island, French West Indies.Haemophilia : the official journal of the World Federation of Hemophilia · 2025Article
- Clinical utility of panel-based genetic sequencing for von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025Article
- Global prevalence of platelet-type von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025Article
- Challenges and considerations of genetic testing in von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025Review
- Application of genetic testing for the diagnosis of von Willebrand disease.Journal of thrombosis and haemostasis : JTH · 2024Review
- von Willebrand disease.Nature reviews. Disease primers · 2024Review
- Variant p.Tyr1584Cys: a frequent von Willebrand factor variant in search of von Willebrand disease.Research and practice in thrombosis and haemostasis · 2024Article
- Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.Blood advances · 2024Article
- Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.NPJ genomic medicine · 2023Article
- New insights into the diagnosis and management of patients with type 2M von Willebrand disease.Research and practice in thrombosis and haemostasis · 2023Article
- A comparative study in patients with type 2 von Willebrand disease using 4 different platelet-dependent von Willebrand factor assays.Research and practice in thrombosis and haemostasis · 2023Article
- Diagnostic Performance of Von Willebrand Activity Versus Ristocetin Cofactor Tests in the Primary Evaluation of Von Willebrand Disease in Colombia.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisArticle
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
von Willebrand disease (VWD) type 2 is caused by qualitative abnormalities of von Willebrand factor (VWF). This study aimed to determine the genotypic and phenotypic characterizations of a large VWD type 2 cohort from Milan. We included 321 patients (54% female) within 148 unrelated families from 1995 to 2021. Patients were fully characterized using laboratory phenotypic tests, and the genotypic diagnosis was confirmed by target genetic analysis using Sanger sequencing. Patients were diagnosed with type 2A (n = 98; 48 families), 2B (n = 85; 38 families), 2M (n = 112; 50 families), or 2N (n = 26; 12 families). Eighty-two unique VWF variants, including 8 novel variants, were found. The potential pathogenic effect of novel variants was assessed by in silico analysis. Most patients were heterozygous for a single variant (n = 259; 81%), whereas 37 cases (11%) had 2 variants (4 homozygous, 9 in trans, and 24 in cis). Twenty-five patients (8%) had ≥3 variants, mainly as a result of gene conversions. Among the 82 distinct variants identified, 5 different types, including missense (n = 64), gene conversion (n = 10), synonymous (n = 1), deletion (n = 4), and splice (n = 3), were observed. The results from this large cohort showed that VWD type 2 is invariably due to variants that do not prevent the synthesis of the protein, and a vast majority of patients (88%) had missense variants. Given the complexity of type 2 diagnosis and the necessity of performing several phenotypic tests, genetic analysis for patients suspected of having type 2 is beneficial to establish the correct diagnosis.
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