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Detailed von Willeb...
Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD)
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Budde, U (author)
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Schneppenheim, R (author)
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Eikenboom, J (author)
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Goodeve, A (author)
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Will, K (author)
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Drewke, E (author)
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Castaman, G (author)
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Rodeghiero, F (author)
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Federici, A B (author)
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Batlle, J (author)
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Perez, A (author)
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Meyer, D (author)
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Mazurier, C (author)
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Goudemand, J (author)
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Ingerslev, J (author)
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Habart, D (author)
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Vorlova, Z (author)
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- Holmberg, Lars (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Lethagen, Stefan (author)
- Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine
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Pasi, J (author)
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Hill, F (author)
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Peake, I (author)
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(creator_code:org_t)
- Elsevier BV, 2008
- 2008
- English.
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In: Journal of Thrombosis and Haemostasis. - : Elsevier BV. - 1538-7933 .- 1538-7836. ; 6:5, s. 762-771
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Background: Type 1 von Willebrand disease (VWD) is a congenital bleeding disorder characterized by a partial quantitative deficiency of plasma von Willebrand factor (VWF) in the absence of structural and/or functional VWF defects. Accurate assessment of the quantity and quality of plasma VWF is difficult but is a prerequisite for correct classification. Objective: To evaluate the proportion of misclassification of patients historically diagnosed with type 1 VWD using detailed analysis of the VWF multimer structure. Patients and methods: Previously diagnosed type 1 VWD families and healthy controls were recruited by 12 expert centers in nine European countries. Phenotypic characterization comprised plasma VWF parameters and multimer analysis using low- and intermediate-resolution gels combined with an optimized visualization system. VWF genotyping was performed in all index cases (ICs). Results: Abnormal multimers were present in 57 out of 150 ICs; however, only 29 out of these 57 (51%) had VWF ristocetin cofactor to antigen ratio below 0.7. In most cases multimer abnormalities were subtle, and only two cases had a significant loss of the largest multimers. Conclusions: Of the cases previously diagnosed as type 1 VWD, 38% showed abnormal multimers. Depending on the classification criteria used, 22 out of these 57 cases (15% of the total cohort) may be reclassified as type 2, emphasizing the requirement for multimer analysis compared with a mere ratio of VWF functional parameters and VWF:Ag. This is further supported by the finding that even slightly aberrant multimers are highly predictive for the presence of VWF mutations.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Keyword
- von Willebrand disease
- type 1
- multimer analysis
- mutation
- von
- Willebrand factor
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Budde, U
-
Schneppenheim, R
-
Eikenboom, J
-
Goodeve, A
-
Will, K
-
Drewke, E
-
show more...
-
Castaman, G
-
Rodeghiero, F
-
Federici, A B
-
Batlle, J
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Perez, A
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Meyer, D
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Mazurier, C
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Goudemand, J
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Ingerslev, J
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Habart, D
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Vorlova, Z
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Holmberg, Lars
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Lethagen, Stefan
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Pasi, J
-
Hill, F
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Peake, I
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show less...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cardiac and Card ...
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Journal of Throm ...
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Lund University