A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease
von Willebrand disease (VWD) is a genetic bleeding disease due to a defect of von Willebrand factor (VWF), a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels
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| Veröffentlicht in: | Medicine (Baltimore) 2016-03, Vol.95 (11) |
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| creator | Veyradier, Agnès Boisseau, Pierre Fressinaud, Edith Caron, Claudine Ternisien, Catherine Giraud, Mathilde Zawadzki, Christophe Trossaërt, Marc Itzhar-Baikian, Nathalie Dreyfus, Marie d'Oiron, Roseline Borel-Derlon, Annie Susen, Sophie Bézieau, Stéphane Denis, Cecile Goudemand, Jenny von Willebrand Disease, French Reference Center For Gris, Jean-Christophe |
| description | von Willebrand disease (VWD) is a genetic bleeding disease due to a defect of von Willebrand factor (VWF), a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels |
| doi_str_mv | 10.1097/MD.0000000000003038 |
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VWD include quantitative defects of VWF, either partial (type 1 with VWF levels <50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). The most bleeding forms of VWD usually do not concern type 1 patients with the mildest VWF defects (VWF levels between 30 and 50 IU/dL). The French reference center for VWD performed a laboratory phenotypic and genotypic analysis in 1167 VWD patients (670 families) selected by their basic biologic phenotype: type 3, type 2, and type 1 with VWF levels <30 IU/dL. In these patients indeed, to achieve an accurate diagnosis of VWD type and subtype is crucial for the management (treatment and genetic counseling). A phenotype/genotype correlation was present in 99.3% of cases; 323 distinct VWF sequence variations (58% of novel) were identified (missense 67% versus truncating 33%). The distribution of VWD types was: 25% of type 1, 8% of type 3, 66% of type 2 (2A: 18%, 2B: 17%, 2M: 19%, 2N: 12%), and 1% of undetermined type. Type 1 VWD was related either to a defective synthesis/secretion or to an accelerated clearance of VWF. In type 3 VWD, bi-allelic mutations of VWF were found in almost all patients. In type 2A, the most frequent mechanism was a hyper-proteolysis of VWF. Type 2B showed 85% of patients with deleterious mutations (distinct from type 2B New York). Type 2M was linked to a defective binding of VWF to platelet glycoprotein Ib or to collagen. Type 2N VWD included almost half type 2N/3. This biologic study emphasizes the complex mechanisms for both quantitative and qualitative VWF defects in VWD. In addition, this study provides a new epidemiologic picture of the most bleeding forms of VWD in which qualitative defects are predominant.</description><identifier>ISSN: 0025-7974</identifier><identifier>EISSN: 1536-5964</identifier><identifier>DOI: 10.1097/MD.0000000000003038</identifier><identifier>PMID: 26986123</identifier><language>eng</language><publisher>Lippincott, Williams & Wilkins</publisher><subject>Human health and pathology ; Life Sciences</subject><ispartof>Medicine (Baltimore), 2016-03, Vol.95 (11)</ispartof><rights>Attribution - NonCommercial - NoDerivatives</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c214t-395970514cfdbd9243545d8a7c8fc19c90592463200f364d192aec1f0feca5283</citedby><orcidid>0000-0001-5953-163X ; 0000-0002-9899-9910 ; 0000-0003-0190-3538 ; 0000-0001-7773-5003</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,315,781,785,865,886,27929,27930</link.rule.ids><backlink>$$Uhttps://hal.science/hal-01872774$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Veyradier, Agnès</creatorcontrib><creatorcontrib>Boisseau, Pierre</creatorcontrib><creatorcontrib>Fressinaud, Edith</creatorcontrib><creatorcontrib>Caron, Claudine</creatorcontrib><creatorcontrib>Ternisien, Catherine</creatorcontrib><creatorcontrib>Giraud, Mathilde</creatorcontrib><creatorcontrib>Zawadzki, Christophe</creatorcontrib><creatorcontrib>Trossaërt, Marc</creatorcontrib><creatorcontrib>Itzhar-Baikian, Nathalie</creatorcontrib><creatorcontrib>Dreyfus, Marie</creatorcontrib><creatorcontrib>d'Oiron, Roseline</creatorcontrib><creatorcontrib>Borel-Derlon, Annie</creatorcontrib><creatorcontrib>Susen, Sophie</creatorcontrib><creatorcontrib>Bézieau, Stéphane</creatorcontrib><creatorcontrib>Denis, Cecile</creatorcontrib><creatorcontrib>Goudemand, Jenny</creatorcontrib><creatorcontrib>von Willebrand Disease, French Reference Center For</creatorcontrib><creatorcontrib>Gris, Jean-Christophe</creatorcontrib><title>A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease</title><title>Medicine (Baltimore)</title><description>von Willebrand disease (VWD) is a genetic bleeding disease due to a defect of von Willebrand factor (VWF), a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels <50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). The most bleeding forms of VWD usually do not concern type 1 patients with the mildest VWF defects (VWF levels between 30 and 50 IU/dL). The French reference center for VWD performed a laboratory phenotypic and genotypic analysis in 1167 VWD patients (670 families) selected by their basic biologic phenotype: type 3, type 2, and type 1 with VWF levels <30 IU/dL. In these patients indeed, to achieve an accurate diagnosis of VWD type and subtype is crucial for the management (treatment and genetic counseling). A phenotype/genotype correlation was present in 99.3% of cases; 323 distinct VWF sequence variations (58% of novel) were identified (missense 67% versus truncating 33%). The distribution of VWD types was: 25% of type 1, 8% of type 3, 66% of type 2 (2A: 18%, 2B: 17%, 2M: 19%, 2N: 12%), and 1% of undetermined type. Type 1 VWD was related either to a defective synthesis/secretion or to an accelerated clearance of VWF. In type 3 VWD, bi-allelic mutations of VWF were found in almost all patients. In type 2A, the most frequent mechanism was a hyper-proteolysis of VWF. Type 2B showed 85% of patients with deleterious mutations (distinct from type 2B New York). Type 2M was linked to a defective binding of VWF to platelet glycoprotein Ib or to collagen. Type 2N VWD included almost half type 2N/3. This biologic study emphasizes the complex mechanisms for both quantitative and qualitative VWF defects in VWD. In addition, this study provides a new epidemiologic picture of the most bleeding forms of VWD in which qualitative defects are predominant.</description><subject>Human health and pathology</subject><subject>Life Sciences</subject><issn>0025-7974</issn><issn>1536-5964</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><recordid>eNpNjE1PAjEYhBujEUR_gZdePSy8_d4eCQiYrJGDhuOmdLvZmmWL7YaEf88aOTiXmXmSGYSeCUwJaDV7X07hnxiw_AaNiWAyE1ryWzQGoCJTWvERekjpG4AwRfk9GlGpc0koG6OfOS7MPkTTh3jG28Z1oT8f3Wx9DXgRYnSt6X3ocKgxIVLhVXSdbfB2oK7r09DDAUsFeGUOvvUu4Z3vG3waJjvftm4fTVfhpU_OJPeI7mrTJvd09Qn6Wr1-LjZZ8bF-W8yLzFLC-4xpoRUIwm1d7StNORNcVLlRNq8t0VaDGKBkFKBmkldEU-MsqaF21giaswl6-fttTFseoz-YeC6D8eVmXpS_DEiuqFL8RNgFKO9fDA</recordid><startdate>201603</startdate><enddate>201603</enddate><creator>Veyradier, Agnès</creator><creator>Boisseau, Pierre</creator><creator>Fressinaud, Edith</creator><creator>Caron, Claudine</creator><creator>Ternisien, Catherine</creator><creator>Giraud, Mathilde</creator><creator>Zawadzki, Christophe</creator><creator>Trossaërt, Marc</creator><creator>Itzhar-Baikian, Nathalie</creator><creator>Dreyfus, Marie</creator><creator>d'Oiron, Roseline</creator><creator>Borel-Derlon, Annie</creator><creator>Susen, Sophie</creator><creator>Bézieau, Stéphane</creator><creator>Denis, Cecile</creator><creator>Goudemand, Jenny</creator><creator>von Willebrand Disease, French Reference Center For</creator><creator>Gris, Jean-Christophe</creator><general>Lippincott, Williams & Wilkins</general><scope>1XC</scope><scope>VOOES</scope><orcidid>https://orcid.org/0000-0001-5953-163X</orcidid><orcidid>https://orcid.org/0000-0002-9899-9910</orcidid><orcidid>https://orcid.org/0000-0003-0190-3538</orcidid><orcidid>https://orcid.org/0000-0001-7773-5003</orcidid></search><sort><creationdate>201603</creationdate><title>A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease</title><author>Veyradier, Agnès ; 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VWD include quantitative defects of VWF, either partial (type 1 with VWF levels <50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). The most bleeding forms of VWD usually do not concern type 1 patients with the mildest VWF defects (VWF levels between 30 and 50 IU/dL). The French reference center for VWD performed a laboratory phenotypic and genotypic analysis in 1167 VWD patients (670 families) selected by their basic biologic phenotype: type 3, type 2, and type 1 with VWF levels <30 IU/dL. In these patients indeed, to achieve an accurate diagnosis of VWD type and subtype is crucial for the management (treatment and genetic counseling). A phenotype/genotype correlation was present in 99.3% of cases; 323 distinct VWF sequence variations (58% of novel) were identified (missense 67% versus truncating 33%). The distribution of VWD types was: 25% of type 1, 8% of type 3, 66% of type 2 (2A: 18%, 2B: 17%, 2M: 19%, 2N: 12%), and 1% of undetermined type. Type 1 VWD was related either to a defective synthesis/secretion or to an accelerated clearance of VWF. In type 3 VWD, bi-allelic mutations of VWF were found in almost all patients. In type 2A, the most frequent mechanism was a hyper-proteolysis of VWF. Type 2B showed 85% of patients with deleterious mutations (distinct from type 2B New York). Type 2M was linked to a defective binding of VWF to platelet glycoprotein Ib or to collagen. Type 2N VWD included almost half type 2N/3. This biologic study emphasizes the complex mechanisms for both quantitative and qualitative VWF defects in VWD. In addition, this study provides a new epidemiologic picture of the most bleeding forms of VWD in which qualitative defects are predominant.</abstract><pub>Lippincott, Williams & Wilkins</pub><pmid>26986123</pmid><doi>10.1097/MD.0000000000003038</doi><orcidid>https://orcid.org/0000-0001-5953-163X</orcidid><orcidid>https://orcid.org/0000-0002-9899-9910</orcidid><orcidid>https://orcid.org/0000-0003-0190-3538</orcidid><orcidid>https://orcid.org/0000-0001-7773-5003</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Human health and pathology Life Sciences |
| title | A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease |
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