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Doença de von Willebrand, tipo 2
ORPHA:166081CID-10 · D68.0CID-11 · 3B12OMIM 613554DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
Sangue / imuneInício todas idadesHerança AD/AR

A doença de von Willebrand tipo 2 (DVW tipo 2) é uma forma de DVW caracterizada por um distúrbio hemorrágico associado a uma deficiência qualitativa e anomalias funcionais do fator de Willebrand (fator de von Willebrand; VWF).

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A doença de von Willebrand tipo 2 é um problema genético raro de coagulação no qual o sangue tem dificuldade para estancar devido a defeitos funcionais na proteína do fator de von Willebrand. As pessoas com essa condição costumam perceber sangramentos nasais frequentes, facilidade para ficar com manchas roxas na pele e fluxo menstrual bastante intenso. Atualmente, esta enfermidade não consta na lista oficial de Protocolos Clínicos e Diretrizes Terapêuticas (PCDT) de doenças raras do Ministério da Saúde nem possui medicamentos listados para entrega no SUS. O diagnóstico pode ser esclarecido com testes de laboratório e exames genéticos que analisam o gene VWF.

📋
Informacoes curadas por IA — podem conter imprecisoes

A doença de von Willebrand tipo 2 (DVW tipo 2) é uma forma de DVW caracterizada por um distúrbio hemorrágico associado a uma deficiência qualitativa e anomalias funcionais do fator de Willebrand (fator de von Willebrand; VWF).

Pesquisas ativas
1 ensaio
2 total registrados no ClinicalTrials.gov
Publicações científicas
27 artigos
Último publicado: 2026 Apr 12
Medicamentos
1 com registro
ALTUVIIIO (ANTIHEMOPHILIC FACTOR (RECOMBINANT), FC-VWF-XTEN FUSION PROTEIN-EHTL)

Tem tratamento?

✓ 1 medicamento específico desta doença (registro ANVISA, FDA ou SUS/CEAF)
Ver detalhes, fases e interações →
ALTUVIIIO (ANTIHEMOPHILIC FACTOR (RECOMBINANT), FC-VWF-XTEN FUSION PROTEIN-EHTL)

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.935
Worldwide
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 20%
CID-10: D68.0
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

—
Menorragia
—
Suscetibilidade a hematomas
—
Epistaxe
—
Trombocitopenia
—
Herança autossômica recessiva
—
Atraso no desenvolvimento da fala
7sintomas
Sem dados (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 7 características clínicas mais associadas, ordenadas por frequência.

MenorragiaMenorrhagia
Suscetibilidade a hematomasBruising susceptibility
EpistaxeEpistaxis
TrombocitopeniaThrombocytopenia
Herança autossômica recessivaAutosomal recessive inheritance

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico27PubMed
Últimos 10 anos152publicações
Pico202220 papers
Linha do tempo
2026Hoje · 2026🧪 2019Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

Curadoria gene-doença

fontes oficiais
VWF
VWFvon Willebrand factorDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (2)
Platelet Adhesion to exposed collagenEnhanced cleavage of VWF variant by ADAMTS13
MECANISMO DE DOENÇA

von Willebrand disease 1

A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.

EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
268.7 TPM
Adipose Visceral Omentum
236.8 TPM
Pulmão
211.2 TPM
Mama
188.8 TPM
Útero
129.2 TPM
OUTRAS DOENÇAS (7)
von Willebrand disease 3von Willebrand disease 2von Willebrand disease 1von Willebrand disease type 2N
HGNC:12726UniProt:P04275

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 ALTUVIIIO (ANTIHEMOPHILIC FACTOR (RECOMBINANT), FC-VWF-XTEN FUSION PROTEIN-EHTL)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

770 variantes patogênicas registradas no ClinVar.

🧬 VWF: GRCh38/hg38 12p13.33-11.1(chr12:64621-34650483)x3 ()
🧬 VWF: GRCh38/hg38 12p13.33-q13.12(chr12:82453-49847230)x3 ()
🧬 VWF: NM_000552.5(VWF):c.2673C>A (p.Tyr891Ter) ()
🧬 VWF: NM_000552.5(VWF):c.7096G>T (p.Glu2366Ter) ()
🧬 VWF: NM_000552.5(VWF):c.1110-24_1111del ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 268 variantes classificadas pelo ClinVar.

40
228
Patogênica (14.9%)
VUS (85.1%)
VARIANTES MAIS SIGNIFICATIVAS
VWF: NM_000552.5(VWF):c.3587G>A (p.Cys1196Tyr) [Likely pathogenic]
VWF: NM_000552.5(VWF):c.4623_4624del (p.Tyr1542fs) [Pathogenic]
VWF: NM_000552.5(VWF):c.3955del (p.Val1319fs) [Likely pathogenic]
VWF: NM_000552.5(VWF):c.4811T>G (p.Val1604Gly) [Uncertain significance]
VWF: NM_000552.5(VWF):c.931A>G (p.Thr311Ala) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença de von Willebrand, tipo 2

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Onde estão os ensaios

Com ensaio aberto em 4 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

2 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Divulgue para pacientes e familiares que acompanham esta doença.
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Publicações mais relevantes

Timeline de publicações
15 papers (10 anos)
#1

Peripartum management of caesarean delivery in type 2 von Willebrand disease.

BMJ case reports2026 Feb 19

We report the case of a successful caesarean delivery in a woman with von Willebrand disease (VWD) which poses significant risk of maternal bleeding during childbirth. The patient, a primigravida with known type 2 VWD, was closely monitored throughout gestation with periodic assessment of coagulation profile, von Willebrand factor activity and factor VIII levels. A multidisciplinary team-including obstetricians, haematologists, transfusion medicine specialists and anaesthesiologists-was involved and delivery was planned at 39 weeks' gestation with preparedness for factor replacement. Prophylactic tranexamic acid was administered at induction of labour. Patient landed up in a caesarean section because of pathological cardiotocography with meconium staining. Prophylactic factor VIII replacement therapy was given at induction of anaesthesia to minimise haemorrhagic risk. A caesarean section was performed uneventfully, with no intraoperative or postoperative bleeding complications. Both mother and neonate had a favourable outcome.

#2

Allele-selective disruption of pathogenic VWF variants in type 2 von Willebrand disease using CRISPR/Cas9.

Blood advances2026 Mar 10

In contrast to major innovations in treating severe hemophilia, the treatment of severe von Willebrand disease (VWD) remains limited to intravenous infusion of von Willebrand factor (VWF) concentrates. To date, no gene therapy-based approaches for the treatment of VWD have been developed, largely owing to the disease's heterogeneous mutational landscape and the challenge of specifically targeting VWF production in endothelial cells. In this study, we developed a novel gene therapy strategy for patients with VWD caused by heterozygous dominant-negative VWF variants. Our strategy permanently inactivates VWF variants by selectively disrupting the pathogenic allele's open reading frame via the introduction of indels by Cas9. To circumvent the challenge of designing variant-specific strategies, we targeted the common single nucleotide polymorphism (SNP) rs1800378 in VWF. We used endothelial colony-forming cells (ECFCs) from patients with VWD2A and VWD2B with heterozygous p.C1190R and p.R1306W variants, respectively, to demonstrate ex vivo proof of principle. Using next-generation sequencing analysis, we show efficient and allele-selective knockout of VWF, while maintaining VWF expression of the nontargeted allele. Variant mapping mass spectrometry that discriminates between wild-type and variant VWF proteoforms confirmed selective reduction of variant allele expression, which was accompanied by reversal of cellular disease phenotypes in ECFCs. This study shows the feasibility of a novel gene editing strategy for VWD that, by virtue of its targeting of a common SNP, can be broadly applicable and can be used to design treatments for VWD without being constrained by the disease-causing variant, pathogenic mechanism, or VWD subtype.

#3

Neuraxial labor analgesia in type 2N von Willebrand disease: a case report.

International journal of obstetric anesthesia2026 Feb

Von Willebrand disease (VWD) is a family of disorders involving quantitative or qualitative deficiencies of von Willebrand factor. Type 2N von Willebrand disease is a rare variant in which defective von Willebrand factor fails to stabilize factor VIII. Factor VIII deficiency may pose increased risks of postpartum hemorrhage and spinal-epidural hematoma after neuraxial analgesia, yet clinical guidance on its peripartum management remains extremely limited. This case reports on the successful administration of neuraxial analgesia in a 23-year-old nulliparous patient with type 2N VWD who presented with active vaginal bleeding and impending preterm delivery. Targeted preprocedural correction of factor VIII and von Willebrand factor levels, with adjunct thromboelastography, enabled uneventful neuraxial analgesia administration and uncomplicated preterm vaginal delivery. No complications from neuraxial were noted. However, despite satisfactory factor VIII and von Willebrand factor levels at discharge, the patient experienced delayed postpartum bleeding requiring readmission. This case demonstrates the feasibility of neuraxial labor analgesia in women with type 2N VWD after thorough risk assessment and mitigation, interdisciplinary collaboration, and individualized care. The occurrence of delayed bleeding additionally underscores the importance of postpartum monitoring as factor levels decline. This report contributes to the limited but growing body of evidence on obstetric anesthesia neuraxial procedures in the setting of rare bleeding disorders.

#4

Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.

Haematologica2026 Feb 01

The clinical and genetic features of type 2 von Willebrand disease (VWD) have been described, but genotype-phenotype correlations in large cohorts remain incompletely understood. We investigated the relationship between von Willebrand factor gene (VWF) variants and bleeding severity in a large, well-characterized cohort of type 2 VWD patients, aiming to identify genetic determinants underlying clinical variability. Comprehensive laboratory evaluation, VWF molecular testing, in silico analyses, and bleeding assessment using the ISTH bleeding assessment tool (ISTH-BAT) were performed. Among 371 genetically confirmed cases, ISTH-BAT scores were available for 274 individuals: 83 with type 2A, 69 with 2B, 106 with 2M, and 16 with 2N. The highest bleeding scores were observed in type 2A (median 7), followed by 2B (5), 2M (4), and 2N (4). A total of 67 distinct VWF variants were identified. Notably, we observed substantial variability in bleeding severity both across different variants causing the same VWD phenotypes and among individuals carrying the same VWF variant. ISTH-BAT scores were significantly higher in females than in males, and in adults compared to children. Among adults, but not children, bleeding scores differed significantly between some subtypes. No significant differences were observed between patients with blood group O and non-O. While certain mucocutaneous bleeding symptoms such as menorrhagia, cutaneous, and epistaxis were commonly observed across all type 2 subtypes, our data highlight important subtype-specific differences in bleeding phenotype profiles. This study provides one of the largest genotype-phenotype datasets in type 2 VWD, revealing marked variability in bleeding severity both across type 2 VWD subtypes and among patients with the same genetic variants.

#5

A phase 1, open-label study to assess the pharmacokinetics, safety, and tolerability of a single intravenous injection of efanesoctocog alfa in adults with type 2N or type 3 von Willebrand disease.

Journal of thrombosis and haemostasis : JTH2026 Jan

Efanesoctocog alfa is a high-sustained factor (F)VIII replacement therapy for hemophilia A. The D'D3 domain of efanesoctocog alfa overcomes the von Willebrand factor-imposed half-life ceiling and may allow correction of reduced FVIII levels experienced by people with type 2N or type 3 von Willebrand disease (VWD). This study aimed to assess the pharmacokinetics, safety, and tolerability of efanesoctocog alfa in type 2N or type 3 VWD. This was a phase 1, open-label study of efanesoctocog alfa in adults with hereditary type 2N or type 3 VWD (NCT04770935). Participants received a single intravenous dose of efanesoctocog alfa (25 IU/kg). The primary end point was pharmacokinetic parameters as determined by noncompartmental analysis of efanesoctocog alfa FVIII activity using one-stage assay and capture chromogenic assay, the latter of which is more relevant in assessing FVIII levels from efanesoctocog alfa among people with VWD. Secondary end points included adverse events and FVIII inhibitor development. Six participants were assessed (type 2N, n = 2; type 3, n = 4). One dose of efanesoctocog alfa of 25 IU/kg maintained FVIII activity levels of >1 IU/dL up to 10 days postdose. Mean baseline-corrected FVIII activity levels were maintained at >40 and >10 IU/dL up to 1 day and 4 days postdose, respectively, per capture chromogenic assay. Mean (standard deviation) t1/2z was 49.0 (10.2) hours. Efanesoctocog alfa was well tolerated. FVIII inhibitors or antidrug antibodies were not detected. Efanesoctocog alfa is well-tolerated and maintains high FVIII activity levels for a prolonged period in patients with type 2N or type 3 VWD.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC2.385 artigos no totalmostrando 148

2026

Peripartum management of caesarean delivery in type 2 von Willebrand disease.

BMJ case reports
2026

Allele-selective disruption of pathogenic VWF variants in type 2 von Willebrand disease using CRISPR/Cas9.

Blood advances
2026

Neuraxial labor analgesia in type 2N von Willebrand disease: a case report.

International journal of obstetric anesthesia
2026

Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.

Haematologica
2026

A phase 1, open-label study to assess the pharmacokinetics, safety, and tolerability of a single intravenous injection of efanesoctocog alfa in adults with type 2N or type 3 von Willebrand disease.

Journal of thrombosis and haemostasis : JTH
2025

Comparative Analysis of Pure VWF and VWF/FVIII Complex in Orthopedic Surgery for Type 2B von Willebrand Disease.

The American journal of case reports
2026

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.

Thrombosis and haemostasis
2025

A rare case of type 2A von Willebrand disease with compound heterozygous mutation.

Annals of hematology
2025

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Blood
2025

Predicting the effects of single pathological mutations in hemophilia A and type 2N von Willebrand diseases using AlphaFold2-multimer and AlphaFold3.

The Journal of pharmacology and experimental therapeutics
2025

Amelioration of a von Willebrand disease type 2B phenotype in vivo upon treatment with allele-selective siRNAs.

Blood advances
2025

Structure-resolved dynamics of type 2M von Willebrand disease.

Journal of thrombosis and haemostasis : JTH
2024

Genetic variants, thrombocytopenia, and clinical phenotype of type 2B von Willebrand disease: a median 16-year follow-up study.

Journal of thrombosis and haemostasis : JTH
2024

Neonatal Onset Type 2B von Willebrand Disease due to p.Arg1306Trp Variant: a Case Report and a Literature Review.

Clinical laboratory
2024

Type 2N von Willebrand disease: genotype drives different bleeding phenotypes and treatment needs.

Journal of thrombosis and haemostasis : JTH
2024

Small intestinal angiodysplasia and hemorrhage associated with acquired von Willebrand syndrome type 2A secondary to multiple myeloma: Reversal after treatment with IRD regimen (a case report and a brief review of the literature).

Thrombosis research
2024

Misdiagnosis of type 2B von Willebrand disease as immune thrombocytopenia in a thrombocytopenic patient.

Clinical chemistry and laboratory medicine
2024

A noncanonical splicing variant c.875-5 T > G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease.

Thrombosis research
2024

Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.

Blood advances
2024

Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand.

Journal of clinical pathology
2024

Von Willebrand Factor (VWF) multiplex activity assay differentiation of type 1 von Willebrand Disease (VWD) and variant VWD.

Haemophilia : the official journal of the World Federation of Hemophilia
2023

Challenges in management of women with type 2B von Willebrand disease during pregnancy and postpartum: evidence from literature and data from International Registry and Physicians Survey- communication from the SSC of the ISTH: comment from Comerford et al.

Journal of thrombosis and haemostasis : JTH
2023

Periprocedural management of type 2N von Willebrand disease with efanesoctocog alfa.

Journal of thrombosis and haemostasis : JTH
2023

Laboratory Testing for von Willebrand Factor: Factor VIII Binding for the Diagnosis or Exclusion of Type 2N von Willebrand Disease: An Update.

Methods in molecular biology (Clifton, N.J.)
2023

2B or not 2B: art thou autoinhibitory?

Blood
2023

Familial thrombocytopenia and platelet clumping: Clues to the diagnosis of type 2B von Willebrand disease.

Pediatric blood &amp; cancer
2023

von Willebrand factor neutralizing and non-neutralizing alloantibodies in 213 subjects with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Journal of thrombosis and haemostasis : JTH
2023

Challenges in the management of women with type 2B von Willebrand disease during pregnancy and the postpartum period: evidence from literature and data from an international registry and physicians' survey-communication from the Scientific and Standardization Committees of the International Society on Thrombosis and Haemostasis.

Journal of thrombosis and haemostasis : JTH
2023

Type 2B von Willebrand disease mutations differentially perturb autoinhibition of the A1 domain.

Blood
2023

Seidizadeh O, Baronciani L, Pagliari MT, et al. Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2. Blood Adv. 2022; 6(13):4031-4040.

Blood advances
2023

A nanobody against the VWF A3 domain detects ADAMTS13-induced proteolysis in congenital and acquired VWD.

Blood
2022

Origin and timing of de novo variants implicated in type 2 von Willebrand disease.

Journal of cellular and molecular medicine
2023

Von Willebrand Factor Multimer Analysis and Classification: A Comprehensive Review and Updates.

Seminars in thrombosis and hemostasis
2022

External Quality Assessment Data for Investigation of von Willebrand Disease: Focus on Relative Utility of Contemporary Functional von Willebrand Factor Assays. The United Kingdom National External Quality Assessment Scheme (UK NEQAS) Experience.

Seminars in thrombosis and hemostasis
2022

[Three cases of von Willebrand type 2B in children].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2022

Management of a patient with acute myeloid leukaemia with a diagnosis of type 2 von Willebrand disease and a novel variant within the von Willebrand factor (VWF) gene.

British journal of haematology
2022

Evaluating Performance of Contemporary and Historical von Willebrand Factor (VWF) Assays in the Laboratory Identification of von Willebrand Disease (VWD): The Australasian Experience.

Seminars in thrombosis and hemostasis
2022

Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.

Blood
2022

The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease.

Blood advances
2022

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood advances
2022

Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Blood advances
2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype: Comment from Woods et al.

Journal of thrombosis and haemostasis : JTH
2022

"Von Willebrand disease type 2M: Correlation between genotype and phenotype": Comment from Favaloro.

Journal of thrombosis and haemostasis : JTH
2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al.

Journal of thrombosis and haemostasis : JTH
2022

Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood advances
2022

The Lesson Learned from the New c.2547-1G > T Mutation Combined with p.R854Q: When a Type 2N Mutation Reveals a Quantitative von Willebrand Factor Defect.

Thrombosis and haemostasis
2022

The impact of aberrant von Willebrand factor-GPIbα interaction on megakaryopoiesis and platelets in humanized type 2B von Willebrand disease model mouse.

Haematologica
2022

Parathyroid Adenoma in a Young Girl with Type 3 von Willebrand Disease: Comment on "Cancers in Patients with von Willebrand Disease".

Seminars in thrombosis and hemostasis
2022

Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.

Blood advances
2022

A novel mouse model of type 2N VWD was developed by CRISPR/Cas9 gene editing and recapitulates human type 2N VWD.

Blood advances
2021

Type 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia.

Hamostaseologie
2021

Platelet clump visible to the naked eye in type 2B von Willebrand disease.

Blood
2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Journal of thrombosis and haemostasis : JTH
2022

Desialylation of O-glycans activates von Willebrand factor by destabilizing its autoinhibitory module.

Journal of thrombosis and haemostasis : JTH
2021

Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.

Haemophilia : the official journal of the World Federation of Hemophilia
2021

Type 2A and 2M von Willebrand Disease: Differences in Phenotypic Parameters According to the Affected Domain by Disease-Causing Variants and Assessment of Pathophysiological Mechanisms.

Seminars in thrombosis and hemostasis
2021

ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor.

International journal of hematology
2021

[von Willebrand disease type 2B caused by gene mutation in a newborn].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2021

Type 2B von Willebrand Disease in Pregnancy: A Systematic Literature Review.

Seminars in thrombosis and hemostasis
2021

Emicizumab improves thrombus formation of type 2A von willebrand disease under high shear condition.

Haemophilia : the official journal of the World Federation of Hemophilia
2021

Inhibitor development in patients with type 3 Von Willebrand disease, a comprehensive study on 99 Iranian patients.

Haemophilia : the official journal of the World Federation of Hemophilia
2021

Von Willebrand disease type 2N: An update.

Journal of thrombosis and haemostasis : JTH
2021

Endothelial Function in Patients With Von Willebrand Disease.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2021

2B or not 2B? A diagnosis of von Willebrand disease a lifetime of 86 years in the making.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2021

Correcting dominant-negative von Willebrand disease.

Journal of thrombosis and haemostasis : JTH
2021

Type 2N von Willebrand disease: Is it always a recessive trait?

Thrombosis research
2021

Activated factor VIII-mimicking effect by emicizumab on thrombus formation in type 2N von Willebrand disease under high shear flow conditions.

Thrombosis research
2020

Ex Vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small Interfering RNA.

Thrombosis and haemostasis
2021

Laboratory variability in the diagnosis of type 2 VWD variants.

Journal of thrombosis and haemostasis : JTH
2021

In vivo modulation of a dominant-negative variant in mouse models of von Willebrand disease type 2A.

Journal of thrombosis and haemostasis : JTH
2020

Of aortic valve and bleeding: Heyde's syndrome.

The American journal of emergency medicine
2020

Are Iranian patients with von Willebrand disease type 2N properly differentiated from hemophilia A and do they receive appropriate treatment?

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2020

Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.

Thrombosis and haemostasis
2020

Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D'D3 and D4 domains.

Blood advances
2020

Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met Mutation.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2020

Atypical transient perivascular inflammation of the carotid artery (TIPIC) in a previously diagnosed VWD type 2 M.

Haemophilia : the official journal of the World Federation of Hemophilia
2020

Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.

International journal of hematology
2020

Reduced Activity of von Willebrand Factor after Flow-Diverting Stent Implantation for Intracranial Aneurysms: A Link to Acquired von Willebrand Disease?

AJNR. American journal of neuroradiology
2020

Evaluation of clinical severity in patients with type 2N von Willebrand disease using microchip-based flow-chamber system.

International journal of hematology
2019

From Montreal to von Willebrand….

Blood
2020

Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.

Journal of molecular biology
2020

Higher rates of bleeding and use of treatment products among young boys compared to girls with von Willebrand disease.

American journal of hematology
2020

Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease.

International journal of hematology
2019

How I manage severe von Willebrand disease.

British journal of haematology
2019

When age is truly only a number: late diagnosis of von Willebrand disease type 2B in a 61-year-old woman.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2019

Bleeding Symptoms and von Willebrand Factor Levels: 30-Year Experience in a Tertiary Care Center.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2019

Recombinant Von Willebrand factor concentrate in 2A Von Willebrand disease: comparison to plasma-derived Von Willebrand factor concentrate therapy.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2019

Microclot array elastometry for integrated measurement of thrombus formation and clot biomechanics under fluid shear.

Nature communications
2019

BMI is an important determinant of VWF and FVIII levels and bleeding phenotype in patients with von Willebrand disease.

American journal of hematology
2019

Spontaneous recurrent intracranial haemorrhage in a woman with type 2B von Willebrand disease: A clinical case and a brief literature review.

Haemophilia : the official journal of the World Federation of Hemophilia
2019

Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence.

Haematologica
2019

Genetic variants of VWF gene in type 2 von Willebrand disease.

Haemophilia : the official journal of the World Federation of Hemophilia
2019

Case report of two siblings with type 2A von Willebrand disease involving a novel mutation within the calcium-binding site of the A2 domain of von Willebrand factor.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2018

Identification of a homozygous missense mutation (p.Cys379Gly) in the D1 domain of von Willebrand factor propeptide in a family with type 2A (IIC) von Willebrand disease.

Haemophilia : the official journal of the World Federation of Hemophilia
2018

Differential diagnosis between type 2A and 2B von Willebrand disease in a child with a previously undescribed de novo mutation.

Haemophilia : the official journal of the World Federation of Hemophilia
2018

A novel type 2N VWF gene mutation: a case report.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2019

ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.

Experimental dermatology
2018

Protein kinase C signaling dysfunction in von Willebrand disease (p.V1316M) type 2B platelets.

Blood advances
2018

A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.

Pediatric blood &amp; cancer
2018

Management of pregnancy complications in type 2N von Willebrand disease associated to a novel mutation.

Haemophilia : the official journal of the World Federation of Hemophilia
2018

The course of acquired von Willebrand syndrome during pregnancy among patients with essential thrombocytosis.

Journal of thrombosis and thrombolysis
2018

How I treat type 2B von Willebrand disease.

Blood
2018

Is gingival bleeding a symptom of type 2 and 3 von Willebrand disease?

PloS one
2017

Advances in the diagnosis and treatment of Von Willebrand disease.

Hematology. American Society of Hematology. Education Program
2017

A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

PloS one
2018

Type 2N von Willebrand disease: Characterization and diagnostic difficulties.

Haemophilia : the official journal of the World Federation of Hemophilia
2017

A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers.

Animal genetics
2017

Whole blood ristocetin-activated platelet impedance aggregometry (Multiplate) for the rapid detection of Von Willebrand disease.

Thrombosis and haemostasis
2017

Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue.

PloS one
2017

Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice.

Journal of thrombosis and haemostasis : JTH
2017

Von Willebrand Disease type 2 in pregnancy - A critical clinical association.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2017

Clinical and laboratory phenotype variability in type 2M von Willebrand disease.

Journal of thrombosis and haemostasis : JTH
2017

Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.

Platelets
2017

[Detection and analysis of plasma VWF levels in healthy Chinese by automatic standardized assay].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2017

von Willebrand disease type 2B.

Blood
2017

Management of Type 2B von Willebrand Disease during Pregnancy.

Acta haematologica
2017

Type 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia.

Journal of pediatric hematology/oncology
2017

Phenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation.

Seminars in thrombosis and hemostasis
2016

Diagnosing von Willebrand disease: genetic analysis.

Hematology. American Society of Hematology. Education Program
2016

Prolonged Bleeding in a 34-Year-Old Man following Oral Surgery.

Clinical chemistry
2017

The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.

Journal of molecular biology
2017

Use of a thrombopoietin receptor agonist in von Willebrand disease type 2B (p.V1316M) with severe thrombocytopenia and intracranial hemorrhage.

Platelets
2016

LIM kinase/cofilin dysregulation promotes macrothrombocytopenia in severe von Willebrand disease-type 2B.

JCI insight
2016

Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

PloS one
2017

Management of type 2b von Willebrand disease in the neonatal period.

Pediatric blood &amp; cancer
2017

Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2016

Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review-a commentary.

Oral surgery, oral medicine, oral pathology and oral radiology
2016

Platelet abnormalities in a family with von Willebrand disease type 2B (V1316M) and association with bleeding score.

Haemophilia : the official journal of the World Federation of Hemophilia
2016

Genotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B.

Haemophilia : the official journal of the World Federation of Hemophilia
2016

Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.

Journal of thrombosis and haemostasis : JTH
2016

Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid-Dependent Pseudothrombocytopenia.

The Journal of pediatrics
2016

A genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation.

Scientific reports
2016

Type 2M and Type 2A von Willebrand Disease: Similar but Different.

Seminars in thrombosis and hemostasis
2016

Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality.

Seminars in thrombosis and hemostasis
2016

Type 2M von Willebrand disease - more often misidentified than correctly identified.

Haemophilia : the official journal of the World Federation of Hemophilia
2016

Baseline factor VIII plasma levels and age at first bleeding in patients with severe forms of von Willebrand disease.

Haemophilia : the official journal of the World Federation of Hemophilia
2016

A novel ELISA-based diagnosis of acquired von Willebrand disease with increased VWF proteolysis.

Thrombosis and haemostasis
2016

Acquired Type II von Willebrand Syndrome in Locally Advanced Bladder Cancer Successfully Treated With Intravenous Immunoglobulin and Chemotherapy.

Clinical genitourinary cancer
2015

The co-influence of VWD type 2B/2M mutations in the A1 domain and platelet GPIbα on the rate of cleavage to VWF by ADAMTS13.

Thrombosis research
2015

A family having type 2B von Willebrand disease with a novel VWF p.R1308S mutation: Detection of characteristic platelet aggregates on peripheral blood smears as the key aspect of diagnosis.

Thrombosis research
2016

Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review.

Oral surgery, oral medicine, oral pathology and oral radiology
2015

Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype.

Haemophilia : the official journal of the World Federation of Hemophilia
2015

Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination.

Journal of thrombosis and haemostasis : JTH
2015

First report of inhibitory von Willebrand factor alloantibodies in type 2B von Willebrand disease.

British journal of haematology
2015

CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.

Journal of thrombosis and haemostasis : JTH
2015

von Willebrand factor arginine 1205 substitution results in accelerated macrophage-dependent clearance in vivo.

Journal of thrombosis and haemostasis : JTH
2014

Spectrum of Von Willebrand's disease in Punjab: clinical features and types.

Journal of Ayub Medical College, Abbottabad : JAMC
2015

VWD type 2N (Normandy) in two sisters.

Haemophilia : the official journal of the World Federation of Hemophilia
Ver todos os 2.385 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Associação brasileira dedicada a Hemofilia.

Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Doença de von Willebrand, tipo 2 e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

A condição é causada por mutações genéticas no gene VWF, responsável pela produção da proteína do fator de von Willebrand. Essas alterações provocam anomalias na função da proteína, prejudicando a coagulação sanguínea.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

9 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. ORPHA:166081
    Orphanet
  2. GARD:17020
    GARD (NIH)
  3. Q26492789
    Wikidata

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (s.d.). Doença de von Willebrand, tipo 2. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-de-von-willebrand-tipo-2

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Doença de von Willebrand, tipo 2

ORPHA:166081 · MONDO:0013304
Prevalência
1-9 / 1 000 000
Herança
Autosomal dominant, Autosomal recessive
CID-10
D68.0 · Doença de Von Willebrand
CID-11
Ensaios
1 ativos
Início
All ages
Prevalência
0.935 (Worldwide)
MedGen
UMLS
C1264040
EuropePMC
Wikidata
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Genética mendeliana
fonte: OMIM
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Medicamentos aprovados FDA
fonte: FDA OpenFDA
Rara