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Doença de Von Willebrand, tipo 3
ORPHA:166096CID-10 · D68.0CID-11 · 3B12OMIM 277480DOENÇA RARA

A Doença de von Willebrand tipo 3 (DVW tipo 3) é a forma mais grave dessa doença. Ela é caracterizada por um problema que causa sangramentos, ligado à falta total ou quase total do fator de von Willebrand (FVW) no sangue (plasma) e nas células do corpo. Isso também leva a uma falta muito grande do fator VIII (FVIII) no sangue.

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Introdução

O que você precisa saber de cara

📋

A Doença de von Willebrand tipo 3 (DVW tipo 3) é a forma mais grave dessa doença. Ela é caracterizada por um problema que causa sangramentos, ligado à falta total ou quase total do fator de von Willebrand (FVW) no sangue (plasma) e nas células do corpo. Isso também leva a uma falta muito grande do fator VIII (FVIII) no sangue.

Pesquisas ativas
6 ensaios
7 total registrados no ClinicalTrials.gov
Publicações científicas
44 artigos
Último publicado: 2025 Oct

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
0.1865
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 20%
1 medicamentos CEAFCID-10: D68.0
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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

Partes do corpo afetadas

🩸
Sangue
5 sintomas
🦴
Ossos e articulações
1 sintomas

+ 7 sintomas em outras categorias

Características mais comuns

100%prev.
Atividade reduzida do fator de von Willebrand
Obrigatório (100%)
100%prev.
Atividade reduzida do fator VIII
Obrigatório (100%)
17%prev.
Hemorragia articular
Ocasional (29-5%)
Agregação plaquetária prejudicada
Sangramento persistente após trauma
Sangramento anormal
13sintomas
Muito frequente (2)
Ocasional (1)
Sem dados (10)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.

Atividade reduzida do fator de von WillebrandReduced von Willebrand factor activity
Obrigatório (100%)100%
Atividade reduzida do fator VIIIReduced factor VIII activity
Obrigatório (100%)100%
Hemorragia articularJoint hemorrhage
Ocasional (29-5%)17%
Agregação plaquetária prejudicadaImpaired platelet aggregation
Sangramento persistente após traumaPersistent bleeding after trauma

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico44PubMed
Últimos 10 anos94publicações
Pico202215 papers
Linha do tempo
2026Hoje · 2026🧪 2007Primeiro 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 recessive.

VWFvon Willebrand factorDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma

LOCALIZAÇÃO

SecretedSecreted, extracellular space, extracellular matrix

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 311 variantes classificadas pelo ClinVar.

109
202
Patogênica (35.0%)
VUS (65.0%)
VARIANTES MAIS SIGNIFICATIVAS
VWF: NM_000552.5(VWF):c.2754_2755del (p.Val919fs) [Pathogenic]
VWF: NM_000552.5(VWF):c.5778dup (p.Cys1927fs) [Likely pathogenic]
VWF: NM_000552.5(VWF):c.4162C>T (p.Gln1388Ter) [Pathogenic]
VWF: NM_000552.5(VWF):c.1831_1834delinsTGTGCTCCTGCTCGGACGGCCTGTGGAAC (p.Asp611fs) [Pathogenic]
VWF: NM_000552.5(VWF):c.3955del (p.Val1319fs) [Likely pathogenic]

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.
3Fase 31
1Fase 11
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 7 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 3

🗺️

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

🟢 Recrutando agora

6 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

7 ensaios clínicos encontrados, 6 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
20 papers (10 anos)
#1

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.

#2

Management of gastrointestinal bleeding in a patient with type 3 von Willebrand disease and inhibitors to von Willebrand factor: a case report.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis2025 Sep 01

von Willebrand disease (VWD) is a rare bleeding disorder caused by deficiency of von Willebrand factor (VWF). Development of inhibiting alloantibodies to VWF in VWD after exposure to factor concentrates is very rare. We present a 56-year-old male patient with type 3 VWD and history of inhibitors to VWF who was hospitalized due to severe bleeding from the rectal angiodysplasia, which happened 6 months after radical irradiation therapy of the prostate adenocarcinoma. He was treated locally with argon plasma coagulation and application of peptide hydrogel, which resulted in progression of lesions to rectal ulcer covering two-thirds of the rectal mucosa. In addition to almost daily transfusions of red blood cells, he received recombinant activated factor VIIa (rFVIIa), tranexamic acid, FXIII concentrate and activated prothrombin complex concentrate (APCC). Infusion of VWF/FVIII concentrate resulted in reappearance of FVIII inhibitors. Ultimately, the bleeding stopped after introduction of off-label emicizumab, platelet transfusions and local application of the platelet-rich fibrin (PRF).

#3

Successful desensitization with FVIII/Von Willebrand Factor concentrate in Type III Von Willebrand Disease.

Allergologia et immunopathologia2025

Von Willebrand Disease (VWD) Type 3 is a rare and severe bleeding disorder characterized by an almost complete deficiency of Von Willebrand Factor (VWF). Plasma-derived Factor VIII (FVIII)/VWF concentrates are used both on demand and for prophylactic treatment. However, allergic reactions to these products pose significant challenges in clinical management. A 40-year-old female patient with VWD Type 3 presented to our clinic with symptoms including jaw numbness and tightness, chills, fatigue, nausea, and dyspnea following administration of a FVIII/VWF concentrate (Haemate® P). Skin prick tests and intradermal tests were performed for diagnostic evaluation and were found to be negative. The hypersensitivity reaction was assessed as an immediate type and non-IgE-mediated reaction. As there were no alternative treatment options, we decided to perform desensitization. A 14-step desensitization protocol was successfully administered. The patient is now able to self-administer Haemate® P at home three times a week. This case highlights the importance of desensitization and multidisciplinary approach in the case of drug hypersensitivity in patients with VWD Type 3. Our desensitization protocol with FVIII/VWF concentrate is highly effective and safe.

#4

Left Renal Artery Thrombosis in a Patient With von Willebrand Disease Type 3 and Factor V Leiden Heterozygosity.

Cureus2025 Oct

There are a few cases of combined thrombotic and hemophilic disorders coexisting in patients that have been published in the literature, such as factor V Leiden (FVL) with von Willebrand disease (VWD) type 1, and a report of a patient with VWD type 3, protein C and antithrombin III deficiency, and venous thromboses, but no reports in the literature were found of a patient with VWD type 3 and FVL and arterial thromboses. VWD type 3 is the most severe form because it results in nonexistent levels of von Willebrand factor (VWF) and is believed to be protective against arterial thromboses. We present a unique case of a 41-year-old man with a known history of VWD type 3 who presented with left renal artery thrombosis and a large left renal infarct, who was subsequently diagnosed with FVL heterozygosity. Both FVL and VWD type 3 can coexist in a patient. These patients require special considerations in treatment that have not been well documented throughout the literature.

#5

Genetically Confirmed Dual Hematologic Disorder: A Case of β-Thalassemia with Frameshift Mutation and Type 3 von Willebrand Disease in a Pediatric Patient.

Hemoglobin2025 Nov

The coexistence of β-thalassemia major and Type 3 von Willebrand Disease (VWD) is an exceptionally rare clinical phenomenon. We describe a 3-year-old female with genetically confirmed β-thalassemia major due to an HBB frameshift mutation (exons 8-9) and Type 3 VWD with von Willebrand factor (VWF) antigen at 1.8%. Clinically, she presented with recurrent epistaxis, anemia, and transfusion dependence. Serial laboratory investigations revealed persistent microcytic hypochromic anemia, iron overload (ferritin 1778 ng/mL), and markedly low VWF antigen. Management included red blood cell transfusions, chelation, hydroxyurea, vitamin supplementation, and supportive care, while balancing the bleeding risks from VWD. This report underscores the diagnostic challenge and therapeutic complexity of overlapping congenital anemia and bleeding disorder. Multidisciplinary care and genetic testing were pivotal in confirming the diagnosis and guiding management.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC28 artigos no totalmostrando 93

2025

Successful desensitization with FVIII/Von Willebrand Factor concentrate in Type III Von Willebrand Disease.

Allergologia et immunopathologia
2025

Left Renal Artery Thrombosis in a Patient With von Willebrand Disease Type 3 and Factor V Leiden Heterozygosity.

Cureus
2025

Genetically Confirmed Dual Hematologic Disorder: A Case of β-Thalassemia with Frameshift Mutation and Type 3 von Willebrand Disease in a Pediatric Patient.

Hemoglobin
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

Management of gastrointestinal bleeding in a patient with type 3 von Willebrand disease and inhibitors to von Willebrand factor: a case report.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2025

A VWF missense variant in Havanese dogs with type 3 von Willebrand disease.

Animal genetics
2025

A 4-Week-Old Female Infant with Type 3 von Willebrand Disease Presenting with Nosebleeds and Uncontrolled Bleeding Following Surgical Frenectomy: A Clinical Case.

The American journal of case reports
2025

Diagnosis of type III von Willebrand disease in a standard dachshund.

The Journal of small animal practice
2024

Prevalence and characterization of anti-VWF antibodies in a population of patients with type 3 VWD.

Blood advances
2024

Unravelling the spectrum of von Willebrand factor variants in quantitative von Willebrand disease: results from a German cohort study.

Journal of thrombosis and haemostasis : JTH
2024

The impact of von Willebrand factor on fibrin formation and structure unveiled with type 3 von Willebrand disease plasma.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2025

Emicizumab in Type 3 von Willebrand Disease: Report of a Case with an Alloantibody and Literature Review.

Seminars in thrombosis and hemostasis
2024

Efficacy of emicizumab therapy in two adult patients with type 3 von Willebrand disease.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2024

A Rare Case of Klippel Trenaunay Syndrome with Von Willebrand Factor Deficiency and Multiple Accessory Spleens: A Case Report and Brief Literature Review.

Advanced biomedical research
2024

Diagnosis and treatment of von Willebrand disease in 2024 and beyond.

Haemophilia : the official journal of the World Federation of Hemophilia
2024

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

Journal of clinical pathology
2024

Abdominoplasty in a Patient With Type 3 von Willebrand Disease: A Case Report.

Annals of plastic surgery
2023

Colon cancer surgery in von Willebrand disease type 3 setting triggering vascular abnormalities on bowel anastomosis.

Research and practice in thrombosis and haemostasis
2023

Pharmacokinetic-Pharmacodynamic Comparison of Recombinant and Plasma-Derived von Willebrand Factor in Patients with von Willebrand Disease Type 3.

Journal of blood medicine
2023

Reported prevalence of von Willebrand disease worldwide in relation to income classification.

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

Von Willebrand Disease: Gaining a global perspective.

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

Efficacy of platelet-inspired hemostatic nanoparticles on bleeding in von Willebrand disease murine models.

Blood
2023

Switch to pdVWF:pdFVIII concentrate for prophylaxis in a paediatric patient with Type 3 von Willebrand disease: a case report.

Hematology (Amsterdam, Netherlands)
2023

An evaluation of von Willebrand factor (recombinant) therapy for adult patients living with severe type 3 von Willebrand disease.

Expert review of hematology
2023

Prophylaxis with recombinant von Willebrand factor in patients with type 3 von Willebrand disease: Results of a post hoc analysis from a phase 3 trial.

European journal of haematology
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
2022

Protein S gene mutation c.946C > T (p.R316C) contributed to ischemic stroke in a man with von Willebrand disease type 3 caused by two novel VWF gene mutations, c.2328delT (p.A778Lfs* 23) and c.6521G > T (p.C2174F).

Clinical case reports
2022

Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.

Human genomics
2022

Sixth Åland Island Conference on von Willebrand disease.

Haemophilia : the official journal of the World Federation of Hemophilia
2022

Longitudinal bleeding assessment in von Willebrand disease utilizing an interim bleeding score.

Journal of thrombosis and haemostasis : JTH
2022

Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease.

Genes
2022

Combination therapy with von Willebrand factor concentrate plus recombinant factor VIII during cesarean section in a patient with type 3 von Willebrand disease and a low inhibitor titer: a case report.

International journal of hematology
2022

VWF-Gly2752Ser, a novel non-cysteine substitution variant in the CK domain, exhibits severe secretory impairment by hampering C-terminal dimer formation.

Journal of thrombosis and haemostasis : JTH
2022

Emicizumab enhances thrombus formation in vitro under high shear flow conditions in whole blood from patients with type 1 and type 3 von Willebrand disease.

Haemophilia : the official journal of the World Federation of Hemophilia
2022

von Willebrand factor propeptide variants lead to impaired storage and ER retention in patient-derived endothelial colony-forming cells.

Journal of thrombosis and haemostasis : JTH
2022

Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program.

Journal of thrombosis and haemostasis : JTH
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

Von Willebrand factor propeptide and pathophysiological mechanisms in European and Iranian patients with type 3 von Willebrand disease enrolled in the 3WINTERS-IPS study.

Journal of thrombosis and haemostasis : JTH
2022

Laboratory characterization of obligate carriers of type 3 von Willebrand disease with a potential role for Platelet Function Analyzer (PFA-200).

International journal of laboratory hematology
2022

Social participation is reduced in type 3 Von Willebrand disease patients and in patients with a severe bleeding phenotype.

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

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Blood advances
2021

Adolescent With von Willebrand Disease Type 3 Spontaneous Abdominal Hemorrhage.

Journal of emergency nursing
2021

Phage display broadly identifies inhibitor-reactive regions in von Willebrand factor.

Journal of thrombosis and haemostasis : JTH
2021

Monitoring of von Willebrand factor inhibitors in patients with type 3 von Willebrand disease using a quantitative assay.

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

Vascular abnormalities in patients with von Willebrand disease: A scoping review.

Journal of thrombosis and haemostasis : JTH
2021

Variants p.Pro2063Ser and p.Arg324* co-segregate in type 3 von Willebrand disease patients from Southern Brazil.

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
2020

Risk of perinatal intracranial hemorrhage and role of prenatal genetic testing in individuals with type 3 von Willebrand disease.

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

Primary thromboprophylaxis in a patient with type 3 von Willebrand disease and severe COVID-19 infection.

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

The homozygous variant p.Gln1311* in exon 28 of VWF is associated with the development of alloantibodies in 3 unrelated patients with type 3 VWD.

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

A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient.

TH open : companion journal to thrombosis and haemostasis
2020

Kinetics of Platelet Adhesion to Protein-Coated Surface in Whole Blood Samples at High Flow Rates.

Bulletin of experimental biology and medicine
2020

Bleeding symptoms in patients diagnosed as type 3 von Willebrand disease: Results from 3WINTERS-IPS, an international and collaborative cross-sectional study.

Journal of thrombosis and haemostasis : JTH
2019

Presentation and diagnosis of patients with type 3 von Willebrand disease in resources-limited laboratory.

Hematology/oncology and stem cell therapy
2020

Two cases of von Willebrand disease type 3 in consanguineous Chinese families.

Molecular genetics &amp; genomic medicine
2021

Type 3 von Willebrand Disease in Pregnancy: A Systematic Literature Review.

American journal of perinatology
2020

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

American journal of hematology
2019

Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease.

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

How I manage severe von Willebrand disease.

British journal of haematology
2019

Severe recurrent endometriomas in a young woman with congenital von Willebrand disease.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2019

A Novel Case of Compound Heterozygous Type 3 Von Willebrand Disease.

Annals of clinical and laboratory science
2019

Gastrointestinal angiodysplasia in two patients with type 3 von Willebrand disease.

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

Intravenous immunoglobulin treatment in a type 3 von Willebrand disease patient with alloantibodies and a life-threatening gastrointestinal bleed.

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

Platelets compensate for poor thrombin generation in type 3 von Willebrand disease.

Platelets
2018

Joint Mobility and Physical Function of Danish Hemophilia Patients: A Three-Wave Panel Study Spanning 24 Years.

Acta haematologica
2018

Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile.

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

Liver transplantation in hemophilia A and von Willebrand disease type 3: perioperative management and post-transplant outcome.

Revista espanola de enfermedades digestivas
2018

Type 3 von Willebrand disease mistaken for moderate haemophilia A: a lesson still to be learned.

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

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

PloS one
2018

A 12.3-kb Duplication Within the VWF Gene in Pigs Affected by Von Willebrand Disease Type 3.

G3 (Bethesda, Md.)
2017

[Genetic and prenatal diagnosis of a pedigree affected with type 3 von Willebrand disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2017

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

Thrombosis and haemostasis
2017

[Von Willebrand disease type 3 falsely diagnosed as hemophilia A: a case report].

Revue medicale de Bruxelles
2017

Discrepant platelet and plasma von Willebrand factor in von Willebrand disease patients with p.Pro2808Leufs*24.

Journal of thrombosis and haemostasis : JTH
2017

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions.

Orphanet journal of rare diseases
2016

Diagnosing von Willebrand disease: genetic analysis.

Hematology. American Society of Hematology. Education Program
2017

Monitoring of coagulation factor therapy in patients with von Willebrand disease type 3 using a microchip flow chamber system.

Thrombosis and haemostasis
2016

Skin testing, graded challenge, and desensitization to von Willebrand factor (VWF) products in type III von Willebrand disease (VWD).

The journal of allergy and clinical immunology. In practice
2016

Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.

Blood
2016

Prophylaxis in von Willebrand Disease: Coming of Age?

Seminars in thrombosis and hemostasis
2016

Von Willebrand factor regulates complement on endothelial cells.

Kidney international
2016

Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.

Journal of thrombosis and haemostasis : JTH
2016

Self-infusion of prophylaxis: evaluating the quality of its performance and time needed.

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

Liver Transplantation in Type III von Willebrand Disease.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
2015

Congenital Type III von Willebrand's disease unmasked by hypothyroidism in a Shetland sheepdog.

The Canadian veterinary journal = La revue veterinaire canadienne
2015

Angiogenic characteristics of blood outgrowth endothelial cells from patients with von Willebrand disease.

Journal of thrombosis and haemostasis : JTH
2015

Successful aortic aneurysm repair in a woman with severe von Willebrand (type 3) disease.

Case reports in hematology
2015

Management of pregnancy in type 3 von Willebrand disease with additional platelet dysfunction.

Haemophilia : the official journal of the World Federation of Hemophilia
2014

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

Journal of Ayub Medical College, Abbottabad : JAMC
2015

No evidence for a direct effect of von Willebrand factor's ABH blood group antigens on von Willebrand factor clearance.

Journal of thrombosis and haemostasis : JTH
2015

Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2.

PloS one

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Doença de Von Willebrand, tipo 3

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. 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· 2026· PMID 40685140mais citado
  2. Management of gastrointestinal bleeding in a patient with type 3 von Willebrand disease and inhibitors to von Willebrand factor: a case report.
    Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis· 2025· PMID 40549426mais citado
  3. Successful desensitization with FVIII/Von Willebrand Factor concentrate in Type III Von Willebrand Disease.
    Allergologia et immunopathologia· 2025· PMID 41229052mais citado
  4. Left Renal Artery Thrombosis in a Patient With von Willebrand Disease Type 3 and Factor V Leiden Heterozygosity.
    Cureus· 2025· PMID 41209947mais citado
  5. Genetically Confirmed Dual Hematologic Disorder: A Case of &#x3b2;-Thalassemia with Frameshift Mutation and Type 3 von Willebrand Disease in a Pediatric Patient.
    Hemoglobin· 2025· PMID 41199604mais citado
  6. A Rare Case of Klippel Trenaunay Syndrome with Von Willebrand Factor Deficiency and Multiple Accessory Spleens: A Case Report and Brief Literature Review.
    Adv Biomed Res· 2024· PMID 38525403recente
  7. Colon cancer surgery in von Willebrand disease type 3 setting triggering vascular abnormalities on bowel anastomosis.
    Res Pract Thromb Haemost· 2023· PMID 37601018recente
  8. Pharmacokinetic-Pharmacodynamic Comparison of Recombinant and Plasma-Derived von Willebrand Factor in Patients with von Willebrand Disease Type 3.
    J Blood Med· 2023· PMID 37332615recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:166096(Orphanet)
  2. OMIM OMIM:277480(OMIM)
  3. MONDO:0010191(MONDO)
  4. GARD:17025(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q32146577(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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença de Von Willebrand, tipo 3
Compêndio · Raras BR

Doença de Von Willebrand, tipo 3

ORPHA:166096 · MONDO:0010191
🇧🇷 Brasil SUS
CEAF
1AFator VIII de von Willebrand
Geral
Prevalência
1-9 / 1 000 000
Herança
Autosomal recessive
CID-10
D68.0 · Doença de Von Willebrand
CID-11
Ensaios
6 ativos
Início
Infancy, Neonatal
Prevalência
0.1865 (Worldwide)
MedGen
UMLS
C1264041
EuropePMC
Wikidata
Papers 10a
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