A Doença de von Willebrand tipo 1 (DVW tipo 1) é uma forma da Doença de von Willebrand que se manifesta por um problema de sangramento. Isso acontece por causa de uma deficiência parcial (ou seja, uma quantidade menor) do fator de von Willebrand (FVW) no plasma do sangue. Importante ressaltar que, apesar de estar em menor quantidade, esse fator tem estrutura e função normais.
Introdução
O que você precisa saber de cara
A Doença de von Willebrand tipo 1 (DVW tipo 1) é uma forma da Doença de von Willebrand que se manifesta por um problema de sangramento. Isso acontece por causa de uma deficiência parcial (ou seja, uma quantidade menor) do fator de von Willebrand (FVW) no plasma do sangue. Importante ressaltar que, apesar de estar em menor quantidade, esse fator tem estrutura e função normais.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 18 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
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.
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 311 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 1
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
Ensaios em destaque
Pesquisa e ensaios clínicos
5 ensaios clínicos encontrados.
Publicações mais relevantes
Genetic variants in VWF exon 26 and their implications for type 1 Von Willebrand disease in a Saudi Arabian population.
Von Willebrand disease (VWD) is one of the most common bleeding disorders, stemming from irregularities in the Von Willebrand factor (VWF). Globally, type 1 VWD (VWD1) is the most prevalent form, characterized by decreased levels of VWF in the blood. Genotyping studies have found causative genetic variants in approximately 65% of VWD1 cases, revealing the presence of ethnic-specific VWF variants. This study is limited by its exclusive focus on exon 26, warranting further investigation of other exons and the inclusion of functional analyses. Moreover, these findings emphasize the importance of understanding genetic variability in population-specific contexts, supporting the necessity for future studies on additional exons and potential epigenetic interactions. Between 2018 and 2019, samples and relevant medical data were collected at King Fahad Hospital of the University in Al Khobar. Sanger sequencing of the exonic and flanking intronic regions of exon 26 was performed on 22 index cases clinically diagnosed with VWD1 and their first-degree relatives. Analysis revealed four exonic and 11 intronic variants in VWF exon 26 among the participants. None of the identified variants appeared to explain the VWD-related clinical features in these individuals. However, findings suggest a higher prevalence of specific VWF variants within the Saudi population compared to global databases. Further investigation, including sequencing of additional exons or next-generation sequencing, may help to uncover potential disease-causing variants in this cohort. Establishing a national sequencing project could also enhance our understanding of both common and rare variants in the genetic basis of complex diseases, such as VWD1.
A bispecific nanobody for the treatment of von Willebrand disease type 1.
von Willebrand disease (VWD) type 1 is a bleeding disorder characterized by a quantitative deficiency of functional von Willebrand factor (VWF). We designed a novel bispecific nanobody, named KB-V13A12, that aims to increase endogenous VWF levels by bridging it to albumin. KB-V13A12 comprises 2 single-domain antibodies, 1 targeting VWF and 1 targeting albumin. VWF bound efficiently to the albumin/KB-V13A12 complex (2.0 ± 0.4 nM) in immunosorbent assays, and binding was stable at pH 5.6 and 7.4. VWF ristocetin activity and factor VIII binding remained unaffected in the presence of a 100- to 200-fold molar excess of KB-V13A12/albumin. Humanized VWD type 1 mice were used for in vivo analysis. A single subcutaneous dose of KB-V13A12 (5 mg/kg) was associated with a nanobody half-life of 3.0 ± 0.7 days, and dose-dependently increased VWF in VWD type 1 mice 1.4- to 2.1-fold for up to 14 days. Factor VIII activity was also increased during this period. The VWF propeptide/VWF antigen ratio (a marker for VWF clearance) was significantly reduced in the presence of KB-V13A12, suggesting that delayed clearance contributes to increased VWF levels. Clearance experiments in wild-type mice using recombinant VWF preincubated with KB-V13A12 indeed confirmed a prolonged survival, while this prolongation was absent in FcRn-deficient mice. Finally, treatment with KB-V13A12 resulted in a significantly improved bleeding tendency in VWD type 1 mice when using the saphenous vein puncture model. In conclusion, KB-V13A12 is a bispecific nanobody that efficiently increases functional levels of endogenous VWF, and could be a therapeutic option to treat VWD type 1.
Impact of tranexamic acid on postpartum hemorrhage in type 1 von Willebrand disease treated with recombinant VWF.
Postpartum hemorrhage (PPH) affects up to 44% of women with von Willebrand disease (VWD) despite von Willebrand factor (VWF) replacement. Because tranexamic acid (TXA) reduced PPH-related deaths in the WOMAN trial, we assessed whether TXA combined with rVWF vs rVWF alone prevents PPH in VWD. VWD-Woman, a phase 3, open-label, randomized pilot trial, enrolled pregnant women with VWD, aged ≥18 years (von Willebrand Factor Ristocetin Cofactor activity [VWF:RCo] of <0.50 IU/mL, bleeding history). Participants received IV rVWF 80 IU/kg at delivery and postpartum days 1 and 2, with or without TXA (1 g within 3 hours of delivery). The primary outcome was quantitative blood loss (QBL) at delivery. Secondary outcomes included 21-day pictorial blood assessment chart (PBAC) scores, hemoglobin changes, transfusions, hysterectomy, and safety. Of 103 screened, 40 were eligible, and 20 enrolled (10 per group), 100% were iron-deficient. Mean QBL was similar (TXA + rVWF: 727.0 mL; 95% CI, 434.5-1019.5] vs rVWF: 539.7 mL [95% CI, 132.8-946.6]; P = 0.41), as were rates of PPH (30% in both groups). No differences were observed in hemoglobin change (-1.90 g/dL vs -1.42 g/dL, P = 0.49) or 21-day PBAC score (467.1 vs 344.8, P = 0.32). Stratified analyses showed no differences by age, body mass index, VWF activity, or delivery type. No serious adverse events or thrombosis occurred. TXA plus rVWF is feasible and safe in type 1 VWD, but in this small pilot study, was not associated with a reduction in PPH compared with rVWF alone. Iron deficiency is prevalent. Further studies are needed to improve PPH prevention in VWD. This trial was registered at www.ClinicalTrials.gov as #NCT04344860.
A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants.
The regulated secretion of von Willebrand factor (VWF) from Weibel-Palade bodies (WPBs) in endothelial cells is fundamental to hemostasis. This process relies on recruiting Rab GTPases and their effectors to the WPB membrane, with the guanine nucleotide exchange factor MAPK-activating death domain (MADD) playing a central role. Biallelic variants in MADD lead to a pleiotropic neurological and developmental disorder that can include bleeding abnormalities. This study investigates the impact of pathogenic MADD variants on VWF secretion using patient-derived endothelial cells. We isolated endothelial colony-forming cells (ECFCs) from 3 pediatric patients with biallelic MADD variants and unaffected heterozygous family members. All patients exhibited low VWF plasma levels (22-30 IU/dL). Proteomic analysis of patient-derived ECFCs revealed an absence of MADD peptides, reduced VWF, and downregulation of proteins involved in the exocytotic machinery, including Rab3D and the Rab3/27 effector Slp4-a. Functional assays demonstrated diminished Rab27A and Rab3D activity and their failure to localize to WPBs in patient cells. Biochemical and live-imaging studies showed that histamine-induced VWF and VWF propeptide secretion were significantly reduced in patient cells due to delayed and reduced degranulation of WPBs. Our findings demonstrate the critical role of MADD in maintaining the secretion competence of WPBs and the magnitude of VWF secretion by regulating the recruitment of the endothelial exocytotic machinery. This study highlights the in vivo significance of WPB exocytosis in maintaining plasma VWF levels and establishes MADD as the first causal gene for quantitative von Willebrand disease in patients without pathogenic VWF variants.
MADDlessness may cause von Willebrand disease type 1.
Publicações recentes
Genetic variants in VWF exon 26 and their implications for type 1 Von Willebrand disease in a Saudi Arabian population.
MADDlessness may cause von Willebrand disease type 1.
Cavitary Lung Abscess Secondary to a Tracheal Bronchus: A Pediatric Patient With Noonan Syndrome.
A bispecific nanobody for the treatment of von Willebrand disease type 1.
Acute Coronary Syndrome in a Young Woman With Protein S Deficiency and Von Willebrand Disease Type 1: A Case of Mixed Hemostatic Disorders.
📚 EuropePMC30 artigos no totalmostrando 109
Genetic variants in VWF exon 26 and their implications for type 1 Von Willebrand disease in a Saudi Arabian population.
Open life sciencesMADDlessness may cause von Willebrand disease type 1.
BloodCavitary Lung Abscess Secondary to a Tracheal Bronchus: A Pediatric Patient With Noonan Syndrome.
CureusA 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 advancesAcute Coronary Syndrome in a Young Woman With Protein S Deficiency and Von Willebrand Disease Type 1: A Case of Mixed Hemostatic Disorders.
CureusA novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants.
BloodHeavy 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/Hemostasisvon Willebrand disease-specific defects and proteomic signatures in endothelial colony-forming cells.
Journal of thrombosis and haemostasis : JTHA fully humanized von Willebrand disease type 1 mouse model as unique platform to investigate novel therapeutic options.
HaematologicaTropical Myositis: A Not-So-Tropical Diagnosis in a Febrile Type 1 Diabetic Patient.
WMJ : official publication of the State Medical Society of WisconsinLow von Willebrand factor-unraveling an enigma wrapped in a conundrum.
Journal of thrombosis and haemostasis : JTHUnravelling the spectrum of von Willebrand factor variants in quantitative von Willebrand disease: results from a German cohort study.
Journal of thrombosis and haemostasis : JTHType 1 VWD classification revisited: novel insights from combined analysis of the LoVIC and WiN studies.
BloodThe common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change.
Journal of thrombosis and haemostasis : JTHVon 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 HemophiliaEfficacy of adjusted weight-based dosing of desmopressin (1-deamino-8-d-arginine vasopressin in type 1 von Willebrand disease.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisFirst case report of hematidrosis complicated with type 1 von Willebrand disease.
Pediatrics international : official journal of the Japan Pediatric SocietyAssociations of multiple genetic variations with plasma levels of Von Willebrand Factor and clinical phenotype in Iranian patients with Von Willebrand disease type 1.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisPhenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.
Journal of medicine and lifeCoexpression of factor VIII and factor von Willebrand variants in a woman with heavy menstrual bleeding.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisGenetic determinants of enhanced von Willebrand factor clearance from plasma.
Journal of thrombosis and haemostasis : JTHDiagnostic pitfalls and conundrums in type 1 von Willebrand disease.
Hematology. American Society of Hematology. Education ProgramType 1 von Willebrand Disease in a Pediatric Patient Caused by a Novel Heterozygous Deletion of Exons 1 to 6 of the von Willebrand Factor Gene: A Case Report.
Laboratory medicineA decreased and less sustained response to surrogates of haemostatic stress correlates with bleeding in type 1 von Willebrand disease.
Haemophilia : the official journal of the World Federation of HemophiliaAnalysis of Doberman Pinscher and Toy Poodle samples with targeted next-generation sequencing.
GeneInfluence of Von Willebrand Disease (VWD) and pregnancy on the expression of angiogenic factors in the porcine female reproductive tract.
Reproductive biologyHow Do Laboratories Perform von Willebrand Disease Diagnostics and Classification of von Willebrand Disease Patients? Results from External Quality Data and an International Survey.
Seminars in thrombosis and hemostasisA transcriptome analysis of basal and stimulated VWF release from endothelial cells derived from patients with type 1 VWD.
Blood advancesLongitudinal bleeding assessment in von Willebrand disease utilizing an interim bleeding score.
Journal of thrombosis and haemostasis : JTHQuantification of the relationship between desmopressin concentration and Von Willebrand factor in Von Willebrand disease type 1: A pharmacodynamic study.
Haemophilia : the official journal of the World Federation of HemophiliaEmicizumab 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 HemophiliaDisruption of the glomerular basement membrane associated with nutcracker syndrome and double inferior vena cava in Noonan syndrome: a case report.
BMC nephrologyParathyroid Adenoma in a Young Girl with Type 3 von Willebrand Disease: Comment on "Cancers in Patients with von Willebrand Disease".
Seminars in thrombosis and hemostasisThe dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.
Haemophilia : the official journal of the World Federation of HemophiliaSocial 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 HemophiliaImpact of obesity on factor VIII and von Willebrand factor levels in patients with Type 1 von Willebrand disease and low von Willebrand factor: An analysis of the ATHNdataset.
Haemophilia : the official journal of the World Federation of HemophiliaPostpartum Hemorrhage in Patients with Type 1 von Willebrand Disease: A Systematic Review.
Seminars in thrombosis and hemostasisvon Willebrand factor levels in the diagnosis of von Willebrand disease: a systematic review and meta-analysis.
Blood advancesvon Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene.
BloodThe effect of age at diagnosis of type 1 von Willebrand disease on diagnostic laboratory values: A paediatric perspective.
Haemophilia : the official journal of the World Federation of HemophiliaEndothelial Function in Patients With Von Willebrand Disease.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisCriteria for low von Willebrand factor diagnosis and risk score to predict future bleeding.
Journal of thrombosis and haemostasis : JTHIncreasing levels of von Willebrand factor and factor VIII with age in patients affected by von Willebrand disease.
Journal of thrombosis and haemostasis : JTHHow I treat von Willebrand disease.
Thrombosis researchDramatic Response to Pramipexole in Delayed-Onset Parkinsonism from Osmotic Demyelinating Syndrome.
Tremor and other hyperkinetic movements (New York, N.Y.)Detection of acquired von Willebrand syndrome after ventricular assist device by total thrombus-formation analysis system.
ESC heart failureLow VWF: insights into pathogenesis, diagnosis, and clinical management.
Blood advancesCharacterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.
Blood advancesUse of Tranexamic Acid for the Treatment of Mittelschmerz in a Patient with Type 1 von Willebrand Disease and Recurrent Hemorrhagic Cysts.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCBleeding 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 : JTHClinical significance of slightly reduced von Willebrand factor activity.
Polish archives of internal medicinevon Willebrand factor and factor VIII levels after desmopressin are associated with bleeding phenotype in type 1 VWD.
Blood advancesExpression of angiogenic factors in the uteroplacental unit is altered at time of placentation in a porcine model of von Willebrand disease type 1.
Reproductive biologyHigher rates of bleeding and use of treatment products among young boys compared to girls with von Willebrand disease.
American journal of hematologySevere postpartum haemorrhage as first presenting symptom of an inherited bleeding disorder.
Haemophilia : the official journal of the World Federation of HemophiliaCharacterization of a Porcine Model for Von Willebrand Disease Type 1 and 3 Regarding Expression of Angiogenic Mediators in the Nonpregnant Female Reproductive Tract.
Comparative medicineBleeding 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/HemostasisCase of Hemorrhagic Moyamoya Disease Associated with Von Willebrand Disease.
World neurosurgeryThe role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.
Current opinion in hematologyBMI is an important determinant of VWF and FVIII levels and bleeding phenotype in patients with von Willebrand disease.
American journal of hematologyWhole blood ristocetin-induced platelet impedance aggregometry does not reflect clinical severity in patients with type 1 von Willebrand disease.
Haemophilia : the official journal of the World Federation of HemophiliaQuantitative analysis of desmopressin (DDAVP) response in adult patients with type 1 von Willebrand disease.
International journal of laboratory hematologyHow I treat low von Willebrand factor levels.
BloodDiagnostic challenges of inherited mild bleeding disorders: a bait for poorly explored clinical and basic research.
Journal of thrombosis and haemostasis : JTHGenetic Variation in the Syntaxin-Binding Protein STXBP5 in Type 1 von Willebrand Disease Patients.
Thrombosis and haemostasisA case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.
Pediatric blood & cancerAnesthetic Management of a Patient With Type 1 von Willebrand Disease and Uterine Placental Abruption: A Case Report.
AANA journalInheritance of von Willebrand disease Vicenza in a Japanese family.
Haemophilia : the official journal of the World Federation of HemophiliaGenetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients.
PloS oneGenetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.
TH open : companion journal to thrombosis and haemostasisvon Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncAdvances in the diagnosis and treatment of Von Willebrand disease.
Hematology. American Society of Hematology. Education ProgramType 1 von Willebrand disease due to a vicinal cysteine loss (p.C524Y) disclosed after a thrombotic episode.
Thrombosis researchBleeding score in Type 1 von Willebrand disease patients using the ISTH-BAT questionnaire.
International journal of laboratory hematologyOutgrowing the laboratory diagnosis of type 1 von Willebrand disease: A two decade study.
American journal of hematologyEvaluation of a microfluidic flow assay to screen for von Willebrand disease and low von Willebrand factor levels.
Journal of thrombosis and haemostasis : JTHDiscarding Occam's Razor: Atypical Bruising in Severe Hemophilia A.
Clinical pediatricsThe Association of Aging With Von Willebrand Factor Levels and Bleeding Risk in Type 1 Von Willebrand Disease.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisRevascularization Operation for Moyamoya Disease with Concurrent von Willebrand Disease.
World neurosurgeryDecreased severity of Shiga toxin-producing Escherichia coli haemolytic uraemic syndrome (STEC-HUS) in a child with type 1 von Willebrand disease.
BMJ case reportsIncrease of von Willebrand factor with aging in type 1 von Willebrand disease: fact or fiction?
HaematologicaWhole blood ristocetin-activated platelet impedance aggregometry (Multiplate) for the rapid detection of Von Willebrand disease.
Thrombosis and haemostasisA 24-year-old woman with heavy menstrual bleeding.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienneControversies in the diagnosis of Type 1 von Willebrand disease.
International journal of laboratory hematologyDroplet-Shaped Deep Intraretinal Hemorrhage as Initial Presentation of Von Willebrand Disease Type 1.
Ophthalmic surgery, lasers & imaging retinaIntron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site.
Bloodvon Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients.
Haemophilia : the official journal of the World Federation of HemophiliaA prospective study of von Willebrand factor levels and bleeding in pregnant women with type 1 von Willebrand disease.
Haemophilia : the official journal of the World Federation of HemophiliaDiagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.
PloS oneFunctional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.
Blood transfusion = Trasfusione del sangueDiagnostic 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/HemostasisHaemostatic patterns and bleeding scores of a genetically characterised Italian family with combined haemophilia A and type 1 von Willebrand disease.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisCharacterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.
BloodIdentification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type.
Haemophilia : the official journal of the World Federation of HemophiliaProphylaxis in von Willebrand Disease: Coming of Age?
Seminars in thrombosis and hemostasisGingival bleeding and mild type 1 von Willebrand disease.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisSpontaneous recurrent hematuria and hematospermia: Unique manifestations of von Willebrand disease type I. Case report.
Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologicaAssessing the clinical severity of type 1 von Willebrand disease patients with a microchip flow-chamber system.
Journal of thrombosis and haemostasis : JTHClinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.
BloodBaseline 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 HemophiliaValidation Study of the Composite Score to Identify Von Willebrand Disease in Children.
Journal of pediatric hematology/oncologySevere, recessive type 1 is a discrete form of von Willebrand disease: the lesson learned from the c.1534-3C>A von Willebrand factor mutation.
Thrombosis researchSide effects of desmopressin in patients with bleeding disorders.
Haemophilia : the official journal of the World Federation of HemophiliaCLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.
Journal of thrombosis and haemostasis : JTHFactor X deficiency associated with compound heterozygosity involving a novel missense mutation at codon 38 from Val (GTC) to Leu (CTC) in exon 2.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisChanges in von Willebrand factor level and von Willebrand activity with age in type 1 von Willebrand disease.
Haemophilia : the official journal of the World Federation of Hemophiliavon 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 : JAMCAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença de Von Willebrand, tipo 1.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Doença de Von Willebrand, tipo 1
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças 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.
- Genetic variants in VWF exon 26 and their implications for type 1 Von Willebrand disease in a Saudi Arabian population.
- A bispecific nanobody for the treatment of von Willebrand disease type 1.
- Impact of tranexamic acid on postpartum hemorrhage in type 1 von Willebrand disease treated with recombinant VWF.
- A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants.
- MADDlessness may cause von Willebrand disease type 1.
- Cavitary Lung Abscess Secondary to a Tracheal Bronchus: A Pediatric Patient With Noonan Syndrome.
- Acute Coronary Syndrome in a Young Woman With Protein S Deficiency and Von Willebrand Disease Type 1: A Case of Mixed Hemostatic Disorders.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:166078(Orphanet)
- OMIM OMIM:193400(OMIM)
- MONDO:0008668(MONDO)
- GARD:17019(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q26492788(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
