A doença hereditária de von Willebrand (VWD) é um distúrbio hemorrágico hereditário causado por uma anomalia genética que leva a anormalidades quantitativas, estruturais ou funcionais do fator Willebrand (fator de von Willebrand; VWF). Foram definidos dois grupos principais de deficiência de VWF: quantitativa e parcial (tipo 1) ou total (tipo 3) e qualitativa (tipo 2) com vários subtipos (2A, 2B, 2M, 2N).
Introdução
O que você precisa saber de cara
A doença hereditária de von Willebrand (VWD) é um distúrbio hemorrágico hereditário causado por uma anomalia genética que leva a anormalidades quantitativas, estruturais ou funcionais do fator Willebrand (fator de von Willebrand; VWF). Foram definidos dois grupos principais de deficiência de VWF: quantitativa e parcial (tipo 1) ou total (tipo 3) e qualitativa (tipo 2) com vários subtipos (2A, 2B, 2M, 2N).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
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
SecretedSecreted, extracellular space, extracellular matrix
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.
GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium
Membrane
Non-arteritic anterior ischemic optic neuropathy
An autosomal recessive ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
917 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 782 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
25 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
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.838
Managing heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.
Heavy menstrual bleeding (HMB) a common manifestation of bleeding disorders in adolescents contributes to anemia, transfusions, and impaired quality-of-life (QOL). Evidence supporting practical management strategies in resource-limited settings remains limited. This observational study in adolescents with confirmed bleeding disorders with HMB at a tertiary hemophilia treatment centre evaluated menstrual blood loss and QOL after a standard regimen of progesterone, tranexamic acid and iron; blood products or clotting factor concentrates were reserved for refractory bleeding. Twenty adolescents were included (2020-2025); von Willebrand disease (n = 11), chronic immune thrombocytopenia (n = 4), congenital aplastic anemia (n = 3), afibrinogenemia (n = 1), and factor VII deficiency (n = 1). Median PBAC score at presentation was 300 (range 190-500). Eighteen patients (90%) had anemia and prior transfusion exposure. After therapy, median PBAC declined to 100 (range 60-150). Hemoglobin improved steadily and no patient required further red cell transfusion during a median follow-up of four years. Hemostatic products were required only in two patients while on this regimen. Quality-of-life scores improved across physical, emotional, and social domains. A low-cost regimen combining progesterone, antifibrinolytic therapy, and iron effectively controls HMB, corrects anemia, reduces transfusion and factor utilization, and improves QOL in adolescents with bleeding disorders in resource-constrained settings.
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.
Biology of von Willebrand Disease.
Von Willebrand factor (VWF) is a key coagulation protein, tethering platelets to sites of injury through binding sites for platelet GPIbα and for exposed subendothelial collagen. VWF synthesis occurs in endothelial cells and megakaryocytes, a complex process involving the VWF propeptide, dimerization and multimerization, and glycosylation. Von Willebrand disease (VWD) results from defects or dysfunction in VWF and includes both quantitative and qualitative issues with the VWF protein. VWF is cleaved by ADAMTS13 and ultimately cleared from circulation. While it is clear that VWF plays an important role in clot formation, it may also be important in a number of other areas including angiogenesis. Our knowledge of VWF has come a long way in the 100 years since the first publication by Erik von Willebrand in 1926 thanks to a large number of researchers in the VWF biology field.
Von Willebrand Factor Deficiency Impairs Angiogenesis via Angiopoietin-2: Relevance for Gut Angiodysplasia.
Management of recurrent gastrointestinal (GI) bleeding is a clinical unmet need for patients with Von Willebrand disease (VWD) and is linked to the presence of gut vascular malformations (angiodysplasia). We previously demonstrated that von Willebrand factor (VWF) regulates angiogenesis and vascular integrity. VWF controls the storage of the angiogenesis regulator Angiopoietin-2 (Angpt-2) in endothelial cells (EC), suggesting a candidate for the genesis of angiodysplasia; however, no direct evidence of the role of Angpt-2 in VWF-dependent angiogenesis is available. Using VWF-deficient Human Umbilical Vein Endothelial Cells (HUVEC) and endothelial colony forming cells (ECFCs) from severe VWD patients, we find that loss of VWF results in increased Angpt-2 expression through the positive feedback loop Angpt-2-TIE2-AKT-FOXO1-Angpt-2. In the gut of VWF-deficient mice, Angpt-2 expression is increased whilst Angpt-1 expression is decreased, suggesting that VWF regulates the Angpt/Tie2 balance in the gut. Moreover, the intestinal vasculature in the jejunum of VWF-deficient mice appears abnormal, with hyper-sprouting and lumen formation defects. The findings reveal VWF-deficient mice as a model to study gut angiodysplasia. We investigate sprouting angiogenesis in vitro using a fibrin bead assay and find increased sprouting in VWF-deficient EC. We develop a 3D-microfluidic model of angiogenesis and find that ECFCs from severe VWD patients exhibit defective remodeling and abnormal lumen formation, reminiscent of the defects in the gut of VWF KO mice. Importantly, inhibition of Angpt-2 reduces sprouting in VWF-deficient HUVEC and normalises vascular remodeling in VWD ECFCs, suggesting that Angpt-2 inhibitors may be effective in VWD patients with GI bleeding and angiodysplasia.
HMB-002: A Monovalent Antibody that Elevates Circulating VWF and FVIII Levels for Treatment of Von Willebrand Disease.
Von Willebrand Disease (VWD) is the most common inherited bleeding disorder, resulting from deficiency or dysfunction of von Willebrand Factor (VWF), a protein crucial for hemostasis. Current prophylactic options present significant limitations including poor tolerability, short half-life, or the requirement for frequent intravenous administration. Here, we report HMB-002, a human Fc-silenced monovalent IgG4 antibody designed to provide convenient subcutaneous prophylaxis by binding and elevating levels of endogenous VWF. Binding studies and X-ray crystallography revealed that HMB-002 binds VWF with sub-nanomolar affinity at a well-defined epitope in the C-terminal cysteine-knot (CK) domain, which is spatially distant from regions mediating VWF's hemostatic functions. Consistent with structural analyses, in vitro functional studies demonstrated that HMB-002-bound VWF retained its ability to bind factor VIII (FVIII), platelet GPIbα, and collagen, as well as susceptibility to proteolytic regulation by ADAMTS13. In cynomolgus monkeys, intravenous and subcutaneous administration of HMB-002 resulted in time-dependent accumulation of endogenous VWF and FVIII antigen, reaching about two-fold elevation with a proportional increase in VWF activity and with retained VWF multimer distribution. HMB-002 also extended the half-life of co-administered recombinant VWF by approximately three-fold. Using a surrogate antibody with overlapping epitope specificity, similar VWF accumulation was observed in a Type 1 VWD mouse model with improved hemostasis following vascular challenge. By elevating levels of circulating VWF and FVIII, HMB-002 represents a potential subcutaneous prophylactic treatment approach to mitigate the hemostatic impairment in VWD and address current limitations in disease management.
Publicações recentes
Updated Diagnosis of von Willebrand Disease: Global Access, Genomic Insights and Quality Assurance.
Obstetric and Gynaecologic Considerations in Inherited Bleeding Disorders.
🥇 Ensaio randomizadoPractical Advances in the Diagnosis of Haemophilia and von Willebrand Disease Including Monitoring of Non-Factor Replacement Therapies.
Performing Large-Scale Genetic Analysis in the Bleeding Disorders Community.
Type 3 Von Willebrand disease: two clinical cases of a rare disorder.
📚 EuropePMC2.385 artigos no totalmostrando 198
1H, 13C, and 15N backbone resonance assignments of the A2 domain of human von Willebrand factor.
Biomolecular NMR assignmentsVon Willebrand disease as a predictor of postoperative hemorrhagic complications in pediatric adenotonsillar surgery: a retrospective cohort study.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryReal-word evidence on healthcare resource use and associated costs in on-demand users of replacement therapies in von Willebrand disease in France: the FORvWARD study.
Journal of comparative effectiveness researchPostpartum Acquired Hemophilia A in Two Women With Previously Undiagnosed Carrier Status for von Willebrand Disease Type 2N and Heterozygous p.R854Q Mutation.
Haemophilia : the official journal of the World Federation of HemophiliaManaging heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.
Blood cells, molecules & diseasesMapping Laboratory Phenotype-Genotype in Von Willebrand Disease: A Belgian National Survey.
Thrombosis and haemostasisPregnancy outcomes in women with Von Willebrand disease: a statewide cohort study.
Research and practice in thrombosis and haemostasisGraft-derived VWF drives platelet activation and thrombocytopenia during porcine liver xenotransplantation to brain-dead human recipients.
The Journal of clinical investigationInherited Bleeding Disorders in Pregnancy: Obstetric Management and Outcomes From a Tertiary Care Centre.
Haemophilia : the official journal of the World Federation of HemophiliaRecommendation to adopt the Type 1C VWD nomenclature into the classification of von Willebrand disease: Communication from the ISTH SSC Subcommittee on von Willebrand Factor (VWF).
Journal of thrombosis and haemostasis : JTHPreoperative Hemostatic Management for Refractory Abnormal Uterine Bleeding in Patients With von Willebrand Disease: A Case Report.
Case reports in obstetrics and gynecologyManaging massive gastrointestinal and abdominal haemorrhage in inherited bleeding disorders: experience from a pediatric cohort.
International journal of hematologyAllele-selective von Willebrand factor silencing.
Research and practice in thrombosis and haemostasisPathogen-Reduce Cryoprecipitate: An Overview of Method(s) in Pathogen Reduction, Transfusion-Transmitted Infection Risk, and Inventory Management Considerations.
Clinics in laboratory medicineSecond Report of A GPIbα LRR7 Variant (P.Leu194Phe) Supporting the Pathogenicity of Mutations Outside The C-Terminal Domain In Platelet-Type Von Willebrand Disease.
Seminars in thrombosis and hemostasisBeyond a century of discovery: the global and persistent burden of underdiagnosis in von Willebrand disease.
Research and practice in thrombosis and haemostasisPeripartum management of caesarean delivery in type 2 von Willebrand disease.
BMJ case reportsGTH 2026: Connected Science - Advanced Solutions.
HamostaseologieRecombinant von Willebrand factor for von Willebrand disease: mechanism of action and clinical application.
Therapeutic advances in hematologyHealth-related quality of life in adults with von Willebrand disease: results of the French real-life Willebrand study on health-related quality of life.
Research and practice in thrombosis and haemostasisImpact of prophylaxis, inhibitors, and genetics on joint outcomes according to the IPSG-MRI score in hemophilia A, B and vWD type 3.
Frontiers in medicineClinical Spectrum, Subtype Distribution, and Treatment Outcomes in von Willebrand Disease: A Prospective Study from a Hemophilia Treatment Center in Pakistan.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisRelationships between bleeding assessment tools (ISTH-BAT, Self-BAT) and quality of life in patients with bleeding symptoms.
Research and practice in thrombosis and haemostasisA multi-readout photonic sensor for rapid diagnosis of Von Willebrand disease.
Npj biosensingFactor VIII and von Willebrand factor activity levels during long-term prophylaxis with wilate-Analyses from the WIL-31 study.
Research and practice in thrombosis and haemostasisEfficacy and Safety of Prophylaxis With a Plasma-Derived von Willebrand Factor/Factor VIII Concentrate (Wilate) in Patients With Type 3 von Willebrand Disease-A WIL-31 Study Sub-Analysis.
European journal of haematologyComplications of Chiropractic Manipulation in a Patient With Von Willebrand Disease: A Clinical Case Report and Literature Review.
CureusBiology of von Willebrand Disease.
Blood advancesImprovement in health‑related quality of life in patients with heavy menstrual bleeding after treatment and its association with hereditary bleeding disorders.
BMC women's healthA Systematic Review and Meta-Analysis on the Effectiveness and Safety of Tranexamic Acid for Postpartum Haemorrhage in Patients with Haemorrhagic Disorders.
Diseases (Basel, Switzerland)Budd-Chiari Syndrome Secondary to Essential Thrombocythaemia Complicated by Acquired Von Willebrand Disease and Mimicking Hepatic Malignancy: A Case Report.
CureusThe Effect of von Willebrand Disease on Platelet Adhesion Dynamics: Correlating a Multiscale Platelet Model to In Vitro Results.
IEEE transactions on bio-medical engineeringVon Willebrand Factor Deficiency Impairs Angiogenesis via Angiopoietin-2: Relevance for Gut Angiodysplasia.
BloodEnhancing the Evidence for Care in Underserved Bleeding Disorders Communities.
Haemophilia : the official journal of the World Federation of HemophiliaHMB-002: A Monovalent Antibody that Elevates Circulating VWF and FVIII Levels for Treatment of Von Willebrand Disease.
Blood advancesUpdated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Scientific reportsClusterin maintains hemostatic equilibrium by stabilizing VWF multimers in plasma.
BloodFontan-Associated Hepatocellular Carcinoma: Case Report and Management Dilemmas.
CureusPediatric Essential Thrombocythemia: A Case of a JAK2-Mutated Adolescent With Microvascular Symptoms.
CureusConservative Management of Hemoperitoneum Due to a Ruptured Hemorrhagic Ovarian Cyst in Type 3 von Willebrand Disease.
CureusThe WIL-QoL study: How it all began.
Haemophilia : the official journal of the World Federation of HemophiliaVon Willebrand disease: more than just a bleeding disorder.
Research and practice in thrombosis and haemostasisVonicog Alfa versus Plasma-Derived von Willebrand Factor During Hospitalization: Results of an Observational Retrospective Multicenter Study.
Seminars in thrombosis and hemostasisRare Bleeding Disorders: Strategy for Diagnosis and Management- A Tertiary Care Experience from North India.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionHigher-dosed clotting factor prophylaxis fails to reduce postpartum hemorrhage in women with von Willebrand disease: findings from the observational PRegnancy and Inherited bleeding DisordErS study.
Journal of thrombosis and haemostasis : JTHImpact of Exercise/Sport on Well-being in von Willebrand Disease and Other Congenital Bleeding Disorders: An Update.
Seminars in thrombosis and hemostasisCharacteristics and posttransplant outcomes of patients with congenital and acquired von Willebrand disease and hemophilia A and with renal transplants.
Research and practice in thrombosis and haemostasisCorrigendum to 'Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations': [Research and Practice in Thrombosis and Haemostasis 9(7) (2025) 103233].
Research and practice in thrombosis and haemostasisTreating von Willebrand disease without von Willebrand factor.
Journal of thrombosis and haemostasis : JTHGynecologic and obstetric management of girls and women with von Willebrand disease.
HaematologicaHistorical, current and future treatments for von Willebrand disease.
HaematologicaMolecular genetic testing in von Willebrand disease: past, present, and beyond.
HaematologicaClinical and laboratory diagnosis of von Willebrand disease.
HaematologicaVon Willebrand disease: classification and epidemiology.
HaematologicaStructure and multiple functions of von Willebrand factor.
HaematologicaThe landmark contribution by Erik von Willebrand.
HaematologicaCorrigendum to "Evaluation of a microfluidic flow assay to screen for von Willebrand disease and low von Willebrand factor levels".
Journal of thrombosis and haemostasis : JTHImmune Thrombocytopenia and Type 1 von Willebrand Disease in a Patient With a Femoral Fracture: A Case Report.
CureusThe Epigenetic Angle in the Precision Medicine Era for Blood Disorder Advancements.
Sub-cellular biochemistryVon Willebrand Disease Type 2A: An Update.
Seminars in thrombosis and hemostasisvon Willebrand disease combined with other hemostasis disorders: an overlooked clinical entity.
Research and practice in thrombosis and haemostasisType 3 von Willebrand disease in Ethiopia: a comprehensive literature review and report of the first three cases.
Thrombosis journalA retrospective review of diagnosis and management of heavy menstrual bleeding and co-morbidities in patients seen in Young Women's Blood Clinic.
Paediatrics & child healthSurgical intervention with cardiopulmonary bypass in a patient with von Willebrand disease.
BMC anesthesiologyAllele-selective disruption of pathogenic VWF variants in type 2 von Willebrand disease using CRISPR/Cas9.
Blood advancesDiagnostic Performance of Von Willebrand Activity Versus Ristocetin Cofactor Tests in the Primary Evaluation of Von Willebrand Disease in Colombia.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis[Diffuse large B-cell lymphoma with acquired von Willebrand syndrome: a case report and literature review].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiAdvances in Von Willebrand Disease.
Haemophilia : the official journal of the World Federation of HemophiliaPeptide-Level Biomarker as a New Direction for Blood-Based Testing: Evaluation of Plasma Proteome Variability Induced by Prolonged on-Ice Storage.
Journal of proteome researchPostpartum haemorrhage in pregnant carriers of haemophilia and women with von Willebrand disease: a nationwide inpatient database study.
Annals of clinical epidemiologyHaemostasis and beyond: The expanding role of desmopressin in intensive care.
World journal of critical care medicineThe interplay of von Willebrand disease and women's reproductive health.
Blood advances(Un) Diagnosing von Willebrand disease.
Hematology. American Society of Hematology. Education ProgramPregnancy management for patients with bleeding disorders.
Hematology. American Society of Hematology. Education ProgramDiagnosis of bleeding disorder of unknown cause: how many tests are enough to diagnose BDUC?
Hematology. American Society of Hematology. Education ProgramNatural variants of von Willebrand factor R1205 causing von Willebrand disease with accelerated von Willebrand factor clearance: In silico docking models and energetics of the interaction with both LRP1 and GpIb A1 domain.
PLoS computational biologyNeuraxial labor analgesia in type 2N von Willebrand disease: a case report.
International journal of obstetric anesthesiaGenetic variants in VWF exon 26 and their implications for type 1 Von Willebrand disease in a Saudi Arabian population.
Open life sciencesDeep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations.
Research and practice in thrombosis and haemostasisHealth-Related Quality of Life in Adult Patients With von Willebrand Disease From Germany: Results of the WIL-QoL Study.
Haemophilia : the official journal of the World Federation of HemophiliaTimeliness of hemostatic therapy administration for patients with bleeding disorders in the emergency department.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisAntiangiogenic Treatment of Patients with Hereditary Hemorrhagic Telangiectasia: Experience of a Hungarian Center.
Journal of clinical medicineIndividualizing dosing frequency may improve the efficacy of prophylaxis in patients with von Willebrand disease-a WIL-31 subanalysis.
Research and practice in thrombosis and haemostasisNanobody treatment of von Willebrand disease.
Blood"Health-related quality of life in children with von Willebrand disease: results of the French real-life Willebrand Study Health-related Quality of Life study": reply.
Journal of thrombosis and haemostasis : JTH"Health-related quality of life in children with von Willebrand disease: results of the French real-life Willebrand Study Health-related Quality of Life study": comment.
Journal of thrombosis and haemostasis : JTHClinical, Obstetric-Gynaecological and HRQoL Data of Female VWD Patients in the WIL-QoL Study.
Haemophilia : the official journal of the World Federation of HemophiliaSuccessful desensitization with FVIII/Von Willebrand Factor concentrate in Type III Von Willebrand Disease.
Allergologia et immunopathologiaEmicizumab enhances the ex vivo coagulant potential in plasma samples from patients with von Willebrand disease.
International journal of hematologyDeveloping Entrustable Professional Activities for Hematology Residency Program in a Low-Resource Setting: A Modified Delphi Study.
Journal of advances in medical education & professionalismLeft Renal Artery Thrombosis in a Patient With von Willebrand Disease Type 3 and Factor V Leiden Heterozygosity.
CureusNeuraxial analgesia in pregnant individuals with bleeding disorders: a retrospective descriptive study of obstetric anesthesia practices and outcomes.
Research and practice in thrombosis and haemostasisVon Willebrand disease diagnosis: from complexity to simplicity.
Research and practice in thrombosis and haemostasisTreatment of von Willebrand disease.
Blood advancesGenetically Confirmed Dual Hematologic Disorder: A Case of β-Thalassemia with Frameshift Mutation and Type 3 von Willebrand Disease in a Pediatric Patient.
HemoglobinProtein S as a therapeutic target.
Journal of thrombosis and haemostasis : JTHVon Willebrand factor and von Willebrand disease in ageing: mechanisms, evolving phenotypes, and clinical implications.
The Lancet. Haematologyvon Willebrand factor-T441N, a novel missense variant in the von Willebrand factor D2 domain, exhibits impaired multimerization and deformed Weibel-Palade bodies.
Journal of thrombosis and haemostasis : JTHIntralesional Alteplase as an Adjunct to Percutaneous Drainage for a Large Iliopsoas Muscle Hematoma in a Patient With Von Willebrand Disease: A Case Report.
CureusBeyond Blood: How the Intersectionality of Gender and Race Contributed to a Delayed Diagnosis.
Hospital pediatricsSelf-Administered Bleeding Assessment Tool Scores in Individuals With Verified Bleeding Disorders.
European journal of haematologyvon Willebrand Disease and von Willebrand Factor: Laboratory Standards and Methods Regarding von Willebrand Factor Activity Assays, von Willebrand Factor Propeptide Assays, and Multimer Methodology.
Clinics in laboratory medicineFlow Diversion for Intracranial Aneurysms in Patients with Hematologic Disorders.
NeurointerventionPoint-of-care musculoskeletal ultrasound for hemophilic arthropathy: a scoping review of scanning protocols by the Imaging Expert Working Group of the International Prophylaxis Study Group.
Research and practice in thrombosis and haemostasisThe use of artificial intelligence in the prevention and management of bleeding disorders: a systematic review.
Frontiers in medicineKeeping eyes and mind open to platelet-type von Willebrand disease.
Journal of thrombosis and haemostasis : JTHTranscutaneous auricular neurostimulation to reduce heavy menstrual bleeding in women with and without von Willebrand disease.
Frontiers in medicineMADDlessness may cause von Willebrand disease type 1.
BloodEfanesoctocog Alfa Prophylaxis in a Patient With Combined Mild Hemophilia A and Type 1 von Willebrand Disease.
Pediatric blood & cancerModeling response to high-purity von Willebrand factor: toward tailored dosing during surgery in von Willebrand disease.
Blood advancesManagement of von Willebrand Disease With a Factor VIII-Poor von Willebrand Factor Concentrate: Results From the Paediatric Cohort of a Prospective Observational Post-Marketing Study.
Haemophilia : the official journal of the World Federation of HemophiliaScreening Yield of Inherited Bleeding Disorder Questionnaires in Women With Chronic Heavy Menstrual Bleeding (HMB): A Cross-Sectional Study.
CureusAlgorithm-based effective recognition of acquired hemophilia A and other causes of isolated prolonged activated partial thromboplastin time within large blood sample series.
Research and practice in thrombosis and haemostasisContemporary trends in maternal outcomes during delivery hospitalizations among pregnancies complicated by von Willebrand disease-a cross-sectional analysis.
Research and practice in thrombosis and haemostasisOutcomes and Healthcare Resource Utilisation in Adults With von Willebrand Disease Treated With Recombinant von Willebrand Factor in Surgical Settings in the United Kingdom.
European journal of haematologyAnovulatory bleeding and the spectrum of bleeding disorders: Understanding heavy menstrual bleeding in adolescents.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsPrevention of hemorrhage after implantation of mechanical circulatory support with a purified von Willebrand factor concentrate: results of the early terminated randomized controlled trial.
Journal of thrombosis and haemostasis : JTHOutcomes and Healthcare Resource Utilisation in Adults With von Willebrand Disease Receiving On-Demand Recombinant von Willebrand Factor in the United Kingdom.
European journal of haematologyHigh Rates of Post-Tonsillectomy Hemorrhage in Children With von Willebrand Disease.
Pediatric blood & cancerUpdated Egyptian national guidelines for management of hemophilia A in children & adolescents.
Annals of hematologySafety of Recombinant von Willebrand Factor in the Treatment of von Willebrand Disease: Real-World Data from an EU Post-Authorization Safety Study.
Journal of blood medicineRewriting the script: gene therapy and genome editing for von Willebrand Disease.
Frontiers in genome editingRetrospective Evaluation of Cryoprecipitate Transfusion in Dogs to Prevent or Treat Hemorrhage: 21 Cases (2009-2023).
Journal of veterinary emergency and critical care (San Antonio, Tex. : 2001)Valproic Acid-Associated von Willebrand Disease and Delayed-Onset Orbital Hematoma.
Journal of child neurologySoluble C5b-9 (sC5b-9) in Pediatrics-A Clinical Assessment.
Journal of clinical laboratory analysisTEG and ROTEM: Technology and Clinical Applications, 2026 Update.
American journal of hematology[Diagnosis and treatment of von Willebrand disease].
[Rinsho ketsueki] The Japanese journal of clinical hematologySociety for Perioperative Assessment and Quality Improvement: a narrative review of best practices for perioperative management of patients with bleeding disorders.
British journal of anaesthesiaCavitary Lung Abscess Secondary to a Tracheal Bronchus: A Pediatric Patient With Noonan Syndrome.
CureusDental surgery for patients with bleeding disorder of unknown cause.
British dental journalBleeding disorders of unknown cause: A conglomeration of disorders with heterogeneous etiology.
Thrombosis researchManaging Anesthesia for a Patient With Von Willebrand Disease: A Case Report.
CureusPrevalence of iron deficiency in patients with mild to moderate bleeding disorders and bleeding disorder of unknown cause.
Research and practice in thrombosis and haemostasisManaging High Risk Pregnancy in Single Ventricle Physiology with Acquired von Willebrand Disease: A Case Report.
Reports (MDPI)An Unusual Presentation of IgM Myeloma.
The Journal of the Association of Physicians of IndiaPrevalence and Impact of Heavy Menstrual Bleeding in Women With von Willebrand Disease Across Age Groups: A Retrospective Study.
Haemophilia : the official journal of the World Federation of HemophiliaDeveloping an artificial intelligence-generated peptide targeting platelet-type von Willebrand disease.
Blood advancesHemorheological changes induced by Flow-diverting stents at the aneurysm neck in cerebral circulation.
NeuroradiologyDetermining the Impact of Combination Oral Contraceptives on Von Willebrand Factor and Factor VIII in Healthy Patients and Patients With Von Willebrand Disease: A Scoping Review and Meta-Analysis.
Haemophilia : the official journal of the World Federation of HemophiliaA Promising Frontier in Cancer Therapy - Combining Endothelial Colony Forming Cells, Nanotechnology, and Hyperthermia for Precision Oncology.
Stem cell reviews and reportsProfuse Bleeding From a Pyogenic Granuloma As the First Clue to von Willebrand Disease in a Pediatric Patient.
CureusUnderstanding the diagnosis, symptoms and treatment of rare bleeding disorders.
Nursing standard (Royal College of Nursing (Great Britain) : 1987)A bispecific nanobody for the treatment of von Willebrand disease type 1.
BloodImpact of tranexamic acid on postpartum hemorrhage in type 1 von Willebrand disease treated with recombinant VWF.
Blood advancesBridging the Evidence Gap in von Willebrand Disease: A Call to Action for Equitable, Evidence-Based Care.
Haemophilia : the official journal of the World Federation of HemophiliaA novel p.C1130S mutation in a Finnish family with a complex phenotype of von Willebrand disease.
HaematologicaDiagnosis of von Willebrand disease.
Blood advancesThe Dental Management of Patients With Common Hematological Disorders and Bleeding Tendency.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryExertion-Induced Intrathecal Haematoma in Undiagnosed Von Willebrand Disease: A Case of Acute Spinal Cord Compression.
CureusEmergent laparoscopic cholecystectomy is safe in the setting of hereditary coagulation disorders: a propensity score-matched analysis of the Nationwide Readmissions Database.
Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary TractGenetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.
HaematologicaSuccessful Living Donor Liver Transplantation from a Donor With Low von Willebrand Factor Activity: A Case Report.
Transplantation proceedingsConservative Management of a Bullous Hematoma in the Case of von Willebrand Disease and Hemophilia A.
EplastyAcute Coronary Syndrome in a Young Woman With Protein S Deficiency and Von Willebrand Disease Type 1: A Case of Mixed Hemostatic Disorders.
CureusAssessment of Mandibular Trabecular Bone by Fractal Analysis on Digital Panoramic Radiograph in Patients with Inherited Bleeding Disorder.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyVon Willebrand Factor as a Therapeutic Target in Thrombotic Disorders.
Thrombosis and haemostasisImpact of coagulation disorders on intracranial hemorrhage outcomes: a case-controlled study.
Neurosurgical reviewDevelopment of Awareness Materials to Promote Early Diagnosis of Undiagnosed von Willebrand Disease: Integration of Multidisciplinary Perspectives Based on a Literature Review.
Haemophilia : the official journal of the World Federation of HemophiliaComparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database.
Blood vessels, thrombosis & hemostasisAn Intrahepatic Cholangiocarcinoma Patient with von Willebrand Disease Successfully Treated with Robotic Hepatectomy under von Willebrand Factor Supplementation.
Surgical case reportsOral health and quality of life in children with blood coagulation disorders and hemoglobinopathies. A cross-sectional study.
Journal of family medicine and primary careA Review of Desmopressin Use in Bleeding Disorders: An Unsung Hero?
BiomoleculesManagement of heavy menstrual bleeding in a multidisciplinary young women's clinic: a Dutch experience.
Research and practice in thrombosis and haemostasisPrevalence of heavy menstrual bleeding, iron deficiency, iron deficiency anemia, and treatment in women with von Willebrand disease-a cohort study.
Research and practice in thrombosis and haemostasisPregnancy following successful accelerated rescue oocyte retrieval following absence of oocytes in primary follicular aspirations: A case report.
MedicineMR-guided focused ultrasound thalamotomy in a patient with thrombocytopenia: illustrative case.
Journal of neurosurgery. Case lessonsProbing rare von Willebrand disease-causing mutations in the D4 and C-domains of von Willebrand factor.
Research and practice in thrombosis and haemostasisA 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 : JTHHematologic versus non-accidental trauma etiologies for bruising identified using an emergency department bruising pathway.
Child abuse & neglectBudget impact analysis of Haemate-P as long-term prophylaxis and on-demand therapy for von Willebrand disease in Spain.
Journal of medical economicsType 1 von Willebrand disease: does it need a sibling?
BloodJuvenile polyposis syndrome in a child with von Willebrand disease: a case report and literature review.
Frontiers in pediatricsvon Willebrand Factor (VWF) Inhibitors in Two Brothers with von Willebrand Disease: A Case Report.
TH open : companion journal to thrombosis and haemostasisA novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants.
BloodVON WILLEBRAND FACTOR IN ECMO: A DYNAMIC MODULATOR OF HEMORRHAGE AND THROMBOSIS.
Shock (Augusta, Ga.)Heavy Menstrual Bleeding and Hormonal Therapy in Women with Type 1 von Willebrand Disease Enrolled on the Zimmerman Program.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisDelayed epidural hematoma after spinal cord stimulator implantation in a patient with von Willebrand disease: Illustration.
Surgical neurology internationalBleeding Complications in JAK2-Variant Essential Thrombocythemia: A Revisit in 2025.
EJHaemManaging Oral Surgery in von Willebrand Disease: Lessons from a Challenging Case.
Journal of clinical and experimental dentistryOral post-surgical complications in patients with hemophilia and von Willebrand disease.
Hematology, transfusion and cell therapyReview of laboratory methods used for analysis of von Willebrand factor and for diagnosis of related diseases.
Expert review of hematologyHemostasis in primary care: A primer.
Current problems in pediatric and adolescent health careEffect of age on ISTH-BAT scores and low VWF diagnosis in the Zimmerman Program.
Blood advancesNormal Haemostasis, Inherited Bleeding Disorders and Surgery: What Does the Anaesthesiologist Need to Know?
Medicina (Kaunas, Lithuania)Acquired von Willebrand syndrome secondary to monoclonal gammopathy: a single-center case series.
Therapeutic advances in hematologyVon Willebrand factor is a multifaceted player in hemostasis requiring a diverse array of analytical and diagnostic approaches.
Expert review of hematologyWilms Tumor and Paraneoplastic Syndromes: Unusual Presentation With Acquired von Willebrand Disease, Polycythemia and Hyperviscosity-A Comprehensive Case Report and Literature Reviews.
Journal of pediatric hematology/oncologyManagement of gastrointestinal bleeding in a patient with type 3 von Willebrand disease and inhibitors to von Willebrand factor: a case report.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisAcute Thyroid Swelling After Fine-Needle Aspiration in von Willebrand Disease: Case Report and Literature Review.
CureusEfficacy of regular prophylaxis with a plasma-derived von Willebrand factor/factor VIII concentrate with a 1:1 activity ratio in reducing heavy menstrual bleeding in girls/women with von Willebrand disease.
AJOG global reportsClotting Factor Concentration During Menstrual Phases in Women With and Without Heavy Menstrual Bleeding: A Systematic Review and Meta-Analysis.
Haemophilia : the official journal of the World Federation of HemophiliaGenetic analysis using long-read sequencing to overcome the difficulties in VWF gene.
Research and practice in thrombosis and haemostasisIntraindividual variability of von Willebrand factor and the need for repeated testing.
Research and practice in thrombosis and haemostasisA VWF missense variant in Havanese dogs with type 3 von Willebrand disease.
Animal geneticsDevelopment and Validation of a Liquid Chromatography High-Resolution Mass Spectrometry Method for Blood Desmopressin Quantification and Its Application in Hemophilia A Patients.
Rapid communications in mass spectrometry : RCMTransient Acquired von Willebrand Disease With a Type 2B Phenotype: Recognizing the Diagnostic Challenges.
CureusVon Willebrand Disease-Induced Gastrointestinal Bleeding: Report of a Rare Case.
Digestive diseases and sciencesHidden Risks Unearthed: A Case of von Willebrand Disease Overlooked by Automated Preoperative Screening.
World journal of plastic surgeryAssociações
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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.
- Managing heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.
- Peripartum management of caesarean delivery in type 2 von Willebrand disease.
- Biology of von Willebrand Disease.
- Von Willebrand Factor Deficiency Impairs Angiogenesis via Angiopoietin-2: Relevance for Gut Angiodysplasia.
- HMB-002: A Monovalent Antibody that Elevates Circulating VWF and FVIII Levels for Treatment of Von Willebrand Disease.
- Updated Diagnosis of von Willebrand Disease: Global Access, Genomic Insights and Quality Assurance.
- Obstetric and Gynaecologic Considerations in Inherited Bleeding Disorders.
- Practical Advances in the Diagnosis of Haemophilia and von Willebrand Disease Including Monitoring of Non-Factor Replacement Therapies.
- Performing Large-Scale Genetic Analysis in the Bleeding Disorders Community.
- Type 3 Von Willebrand disease: two clinical cases of a rare disorder.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:903(Orphanet)
- MONDO:0019565(MONDO)
- GARD:7867(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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
