A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease

Veyradier, Agnès; Boisseau, Pierre; Fressinaud, Édith; Caron, Claudine; Ternisien, Catherine; Giraud, Marion; Zawadzki, Christophe; Trossaërt, Marc; Itzhar‐Baikian, Nathalie; Dreyfus, Marie; d’Oiron, Roseline; Borel‐Derlon, Annie; Susen, Sophie; Bézieau, Stéphane; Denis, Cécile V.; Goudemand, Jenny

doi:10.1097/md.0000000000003038

Cited by 62 publications

(90 citation statements)

References 60 publications

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“…Data from the CRMW are generally consistent with those from a multicentre Spanish study . The percentage of patients with type 1 and type 3 VWD were similar in the CRMW and Spanish studies, although there was some variation in the distribution of type 2 subtypes …”

Section: Vwd Epidemiology and Diagnosticssupporting

confidence: 75%

“…To investigate the impact of phenotype‐genotype on the VWD classification, data have been analysed for 1167 patients enrolled between 2007 and 2012 . Patients previously diagnosed locally with VWD were included in the study.…”

Section: Vwd Epidemiology and Diagnosticsmentioning

confidence: 99%

“…In the 54 type 3 VWD patients, 61 distinct sequence variations were identified that were novel mutations in two‐thirds of cases. These sequence variations were spread over the VWF gene, with a predominance at the N‐terminal part of VWF (D domains), and consisted mainly of truncating mutations leading to silent alleles (82%) and a lower percentage of missense mutations (18%) . The number of patients with type 3 VWD analysed from the CRMW database has now increased to 75 patients, and 72 different mutations were identified throughout the VWF gene (25 (37%) located in the propeptide region and 47 (65%) were novel mutations).…”

Section: Vwd Epidemiology and Diagnosticsmentioning

confidence: 99%

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Fifth Åland Island conference on von Willebrand disease

et al. 2018

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The fifth Åland Island meeting on von Willebrand disease (VWD) was held on the Åland Islands, Finland, from 22 to 24 September 2016-90 years after the first case of VWD was diagnosed in a patient from the Åland Islands in 1926. This meeting brought together experts in the field of VWD to share knowledge and expertise on current trends and challenges in VWD. Topics included the storage and release of von Willebrand factor (VWF), epidemiology and diagnostics in VWD, treatment of VWD, angiogenesis and VWF inhibitors.

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Section: Vwd Epidemiology and Diagnosticssupporting

confidence: 75%

Section: Vwd Epidemiology and Diagnosticsmentioning

confidence: 99%

Section: Vwd Epidemiology and Diagnosticsmentioning

confidence: 99%

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Fifth Åland Island conference on von Willebrand disease

et al. 2018

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“…Recent recommendations of using lower cut-off values for inclusion of these patients amongst those with VWD (30 or 35 IU/dL) will reduce the proportion of individuals classified as affected by VWD1. 6,7 For those within this borderline group, strongest predictors of VWD diagnosis are reduced VWF:RCo level, especially in those with non-O blood-group plus female sex. 8 …”

Section: Type 1 Vwdmentioning

confidence: 92%

Diagnosing von Willebrand disease: genetic analysis

Goodeve

2016

Hematology

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Investigation of a patient with possible von Willebrand disease includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient’s disorder and for this group, genetic analysis can aid diagnosis of disease type. PCR and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next generation sequencing has become available, with the advantage that several genes can be simultaneously analysed where necessary, e.g. for discrimination of possible type 2N von Willebrand disease or mild haemophilia A. Additionally, several techniques can now identify deletions/duplications of an exon or more that result in von Willebrand disease including multiplex ligation-dependent probe amplification and micro-array analysis. Algorithms based on next generation sequencing data can also identify missing or duplicated regions. These newer techniques enable causative VWF defects to be identified in more patients than previously, aiding a specific VWD diagnosis. Genetic analysis can also be helpful in the discrimination between type 2B and platelet-type von Willebrand disease and in prenatal diagnosis for families with type 3.

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“…Type 1 vWD disease is estimated to account for 75–80% of cases, and type 2 approximately 20–25% of cases; type 3, on the other hand, is very rare . However, when diagnosing vWD using genetic methods, the incidence of each of the subtypes varies greatly; type 1 accounts for 25% of cases, type 2 accounts for 66% (type 2A 18%, type 2 M 17%, and type 2N 19%), and 1% are of an undetermined type . This suggests that clinical diagnosis of vWD without genetic testing may be inaccurate and thus the treatment direction in such cases may be inappropriate.…”

Section: Introductionmentioning

confidence: 99%

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

Shim

Park

Jung

et al. 2018

Pediatric Blood & Cancer

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A 10-year-old male and his family members visited a pediatric hematology clinic due to coagulopathy. Laboratory tests indicated von Willebrand disease (vWD) in all the family members. We conducted diagnostic exome sequencing for confirmation. The patient was confirmed to be a compound heterozygote for vWD: c.2574C > G (p.Cys858Trp) from his father (known variant of vWD type 1) and c.3390C > T (p.Pro1127_Gly1180delinsArg) from his mother (variant known to result in exon 26 skipping in vWD type 2A). He was managed with factor VIII and von Willebrand factor complex concentrate during palatoplasty due to bleeding despite pre-operative desmopressin injection. The operation was completed successfully.

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A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease

Abstract: Supplemental Digital Content is available in the text

Cited by 62 publications

References 60 publications

Fifth Åland Island conference on von Willebrand disease

Fifth Åland Island conference on von Willebrand disease

Diagnosing von Willebrand disease: genetic analysis

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

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