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).
Introdução
O que você precisa saber de cara
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.
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).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 7 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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 oficiaisvon 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.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
770 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 268 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
23 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença de von Willebrand, tipo 2
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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.
Publicações mais relevantes
Peripartum management of caesarean delivery in type 2 von Willebrand disease.
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.
Allele-selective disruption of pathogenic VWF variants in type 2 von Willebrand disease using CRISPR/Cas9.
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.
Neuraxial labor analgesia in type 2N von Willebrand disease: a case report.
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.
Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.
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.
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.
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
Mucosal Bleeding in a Newborn With Low Factor VIII Activity: An Unusual Combination of Type 2A and Type 2N von Willebrand Disease.
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.
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.
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
📚 EuropePMC2.385 artigos no totalmostrando 148
Peripartum management of caesarean delivery in type 2 von Willebrand disease.
BMJ case reportsAllele-selective disruption of pathogenic VWF variants in type 2 von Willebrand disease using CRISPR/Cas9.
Blood advancesNeuraxial labor analgesia in type 2N von Willebrand disease: a case report.
International journal of obstetric anesthesiaGenetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.
HaematologicaA 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 : JTHComparative Analysis of Pure VWF and VWF/FVIII Complex in Orthopedic Surgery for Type 2B von Willebrand Disease.
The American journal of case reportsLandscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.
Thrombosis and haemostasisA rare case of type 2A von Willebrand disease with compound heterozygous mutation.
Annals of hematologyClinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.
BloodPredicting 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 therapeuticsAmelioration of a von Willebrand disease type 2B phenotype in vivo upon treatment with allele-selective siRNAs.
Blood advancesStructure-resolved dynamics of type 2M von Willebrand disease.
Journal of thrombosis and haemostasis : JTHGenetic variants, thrombocytopenia, and clinical phenotype of type 2B von Willebrand disease: a median 16-year follow-up study.
Journal of thrombosis and haemostasis : JTHNeonatal Onset Type 2B von Willebrand Disease due to p.Arg1306Trp Variant: a Case Report and a Literature Review.
Clinical laboratoryType 2N von Willebrand disease: genotype drives different bleeding phenotypes and treatment needs.
Journal of thrombosis and haemostasis : JTHSmall 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 researchMisdiagnosis of type 2B von Willebrand disease as immune thrombocytopenia in a thrombocytopenic patient.
Clinical chemistry and laboratory medicineA noncanonical splicing variant c.875-5 T > G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease.
Thrombosis researchType 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.
Blood advancesGenetic variations of type 2 and type 3 von Willebrand diseases in Thailand.
Journal of clinical pathologyVon 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 HemophiliaChallenges 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 : JTHPeriprocedural management of type 2N von Willebrand disease with efanesoctocog alfa.
Journal of thrombosis and haemostasis : JTHLaboratory 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.)2B or not 2B: art thou autoinhibitory?
BloodFamilial thrombocytopenia and platelet clumping: Clues to the diagnosis of type 2B von Willebrand disease.
Pediatric blood & cancervon 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 : JTHChallenges 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 : JTHType 2B von Willebrand disease mutations differentially perturb autoinhibition of the A1 domain.
BloodSeidizadeh 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 advancesA nanobody against the VWF A3 domain detects ADAMTS13-induced proteolysis in congenital and acquired VWD.
BloodOrigin and timing of de novo variants implicated in type 2 von Willebrand disease.
Journal of cellular and molecular medicineVon Willebrand Factor Multimer Analysis and Classification: A Comprehensive Review and Updates.
Seminars in thrombosis and hemostasisExternal 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[Three cases of von Willebrand type 2B in children].
Zhonghua er ke za zhi = Chinese journal of pediatricsManagement 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 haematologyEvaluating 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 hemostasisStructures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.
BloodThe VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease.
Blood advancesPhenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Blood advancesDesmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.
Blood advancesVon Willebrand disease type 2M: Correlation between genotype and phenotype: Comment from Woods et al.
Journal of thrombosis and haemostasis : JTH"Von Willebrand disease type 2M: Correlation between genotype and phenotype": Comment from Favaloro.
Journal of thrombosis and haemostasis : JTHVon 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 : JTHLaboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.
Blood advancesThe 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 haemostasisThe impact of aberrant von Willebrand factor-GPIbα interaction on megakaryopoiesis and platelets in humanized type 2B von Willebrand disease model mouse.
HaematologicaParathyroid Adenoma in a Young Girl with Type 3 von Willebrand Disease: Comment on "Cancers in Patients with von Willebrand Disease".
Seminars in thrombosis and hemostasisNovel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.
Blood advancesA novel mouse model of type 2N VWD was developed by CRISPR/Cas9 gene editing and recapitulates human type 2N VWD.
Blood advancesType 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia.
HamostaseologiePlatelet clump visible to the naked eye in type 2B von Willebrand disease.
BloodVon Willebrand disease type 2M: Correlation between genotype and phenotype.
Journal of thrombosis and haemostasis : JTHDesialylation of O-glycans activates von Willebrand factor by destabilizing its autoinhibitory module.
Journal of thrombosis and haemostasis : JTHType 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.
Haemophilia : the official journal of the World Federation of HemophiliaType 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 hemostasisETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor.
International journal of hematology[von Willebrand disease type 2B caused by gene mutation in a newborn].
Zhonghua er ke za zhi = Chinese journal of pediatricsType 2B von Willebrand Disease in Pregnancy: A Systematic Literature Review.
Seminars in thrombosis and hemostasisEmicizumab improves thrombus formation of type 2A von willebrand disease under high shear condition.
Haemophilia : the official journal of the World Federation of HemophiliaInhibitor 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 HemophiliaVon Willebrand disease type 2N: An update.
Journal of thrombosis and haemostasis : JTHEndothelial Function in Patients With Von Willebrand Disease.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis2B or not 2B? A diagnosis of von Willebrand disease a lifetime of 86 years in the making.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisCorrecting dominant-negative von Willebrand disease.
Journal of thrombosis and haemostasis : JTHType 2N von Willebrand disease: Is it always a recessive trait?
Thrombosis researchActivated factor VIII-mimicking effect by emicizumab on thrombus formation in type 2N von Willebrand disease under high shear flow conditions.
Thrombosis researchEx Vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small Interfering RNA.
Thrombosis and haemostasisLaboratory variability in the diagnosis of type 2 VWD variants.
Journal of thrombosis and haemostasis : JTHIn vivo modulation of a dominant-negative variant in mouse models of von Willebrand disease type 2A.
Journal of thrombosis and haemostasis : JTHOf aortic valve and bleeding: Heyde's syndrome.
The American journal of emergency medicineAre Iranian patients with von Willebrand disease type 2N properly differentiated from hemophilia A and do they receive appropriate treatment?
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisEx vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.
Thrombosis and haemostasisNoncanonical type 2B von Willebrand disease associated with mutations in the VWF D'D3 and D4 domains.
Blood advancesCase 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 HaematologyAtypical 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 HemophiliaMolecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.
International journal of hematologyReduced Activity of von Willebrand Factor after Flow-Diverting Stent Implantation for Intracranial Aneurysms: A Link to Acquired von Willebrand Disease?
AJNR. American journal of neuroradiologyEvaluation of clinical severity in patients with type 2N von Willebrand disease using microchip-based flow-chamber system.
International journal of hematologyFrom Montreal to von Willebrand….
BloodEvidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.
Journal of molecular biologyHigher rates of bleeding and use of treatment products among young boys compared to girls with von Willebrand disease.
American journal of hematologyIdentification 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 hematologyHow I manage severe von Willebrand disease.
British journal of haematologyWhen age is truly only a number: late diagnosis of von Willebrand disease type 2B in a 61-year-old woman.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisBleeding 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/HemostasisRecombinant Von Willebrand factor concentrate in 2A Von Willebrand disease: comparison to plasma-derived Von Willebrand factor concentrate therapy.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisMicroclot array elastometry for integrated measurement of thrombus formation and clot biomechanics under fluid shear.
Nature communicationsBMI is an important determinant of VWF and FVIII levels and bleeding phenotype in patients with von Willebrand disease.
American journal of hematologySpontaneous 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 HemophiliaRelevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence.
HaematologicaGenetic variants of VWF gene in type 2 von Willebrand disease.
Haemophilia : the official journal of the World Federation of HemophiliaCase 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 & fibrinolysis : an international journal in haemostasis and thrombosisIdentification 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 HemophiliaDifferential 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 HemophiliaA novel type 2N VWF gene mutation: a case report.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Experimental dermatologyProtein kinase C signaling dysfunction in von Willebrand disease (p.V1316M) type 2B platelets.
Blood advancesA case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.
Pediatric blood & cancerManagement of pregnancy complications in type 2N von Willebrand disease associated to a novel mutation.
Haemophilia : the official journal of the World Federation of HemophiliaThe course of acquired von Willebrand syndrome during pregnancy among patients with essential thrombocytosis.
Journal of thrombosis and thrombolysisHow I treat type 2B von Willebrand disease.
BloodIs gingival bleeding a symptom of type 2 and 3 von Willebrand disease?
PloS oneAdvances in the diagnosis and treatment of Von Willebrand disease.
Hematology. American Society of Hematology. Education ProgramA common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.
PloS oneType 2N von Willebrand disease: Characterization and diagnostic difficulties.
Haemophilia : the official journal of the World Federation of HemophiliaA novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers.
Animal geneticsWhole blood ristocetin-activated platelet impedance aggregometry (Multiplate) for the rapid detection of Von Willebrand disease.
Thrombosis and haemostasisType 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue.
PloS oneAbnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice.
Journal of thrombosis and haemostasis : JTHVon 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 HaemapheresisClinical and laboratory phenotype variability in type 2M von Willebrand disease.
Journal of thrombosis and haemostasis : JTHDifferential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.
Platelets[Detection and analysis of plasma VWF levels in healthy Chinese by automatic standardized assay].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhivon Willebrand disease type 2B.
BloodManagement of Type 2B von Willebrand Disease during Pregnancy.
Acta haematologicaType 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia.
Journal of pediatric hematology/oncologyPhenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation.
Seminars in thrombosis and hemostasisDiagnosing von Willebrand disease: genetic analysis.
Hematology. American Society of Hematology. Education ProgramProlonged Bleeding in a 34-Year-Old Man following Oral Surgery.
Clinical chemistryThe Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.
Journal of molecular biologyUse of a thrombopoietin receptor agonist in von Willebrand disease type 2B (p.V1316M) with severe thrombocytopenia and intracranial hemorrhage.
PlateletsLIM kinase/cofilin dysregulation promotes macrothrombocytopenia in severe von Willebrand disease-type 2B.
JCI insightDiagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.
PloS oneManagement of type 2b von Willebrand disease in the neonatal period.
Pediatric blood & cancerDiagnostic 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/HemostasisMaxillary 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 radiologyPlatelet 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 HemophiliaGenotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B.
Haemophilia : the official journal of the World Federation of HemophiliaIdentification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.
Journal of thrombosis and haemostasis : JTHThrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid-Dependent Pseudothrombocytopenia.
The Journal of pediatricsA genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation.
Scientific reportsType 2M and Type 2A von Willebrand Disease: Similar but Different.
Seminars in thrombosis and hemostasisType 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality.
Seminars in thrombosis and hemostasisType 2M von Willebrand disease - more often misidentified than correctly identified.
Haemophilia : the official journal of the World Federation of HemophiliaBaseline 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 HemophiliaA novel ELISA-based diagnosis of acquired von Willebrand disease with increased VWF proteolysis.
Thrombosis and haemostasisAcquired Type II von Willebrand Syndrome in Locally Advanced Bladder Cancer Successfully Treated With Intravenous Immunoglobulin and Chemotherapy.
Clinical genitourinary cancerThe 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 researchA 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 researchMaxillary 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 radiologyClinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype.
Haemophilia : the official journal of the World Federation of HemophiliaEvaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination.
Journal of thrombosis and haemostasis : JTHFirst report of inhibitory von Willebrand factor alloantibodies in type 2B von Willebrand disease.
British journal of haematologyCLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.
Journal of thrombosis and haemostasis : JTHvon Willebrand factor arginine 1205 substitution results in accelerated macrophage-dependent clearance in vivo.
Journal of thrombosis and haemostasis : JTHSpectrum of Von Willebrand's disease in Punjab: clinical features and types.
Journal of Ayub Medical College, Abbottabad : JAMCVWD type 2N (Normandy) in two sisters.
Haemophilia : the official journal of the World Federation of HemophiliaAssociações
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.
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
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.
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
Doença de von Willebrand, tipo 2
📋 Origem dos dados
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- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Medicamentos aprovados FDA
- fonte: FDA OpenFDA
- Ensaios clínicos
- fonte: ClinicalTrials.gov