Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue

Most, but not all patients with type 2B von Willebrand disease (VWD)-which features gain-of-function mutations in the A1 domain of von Willebrand factor (VWF)-have no circulating large VWF multimers. Similarities and differences were analysed in 33 type 2B patients, 12 with a normal and 21 with an a...

Full description

Saved in:
Bibliographic Details
Published in:PloS one 2017-06, Vol.12 (6), p.e0179566-e0179566
Main Authors: Casonato, Alessandra, Daidone, Viviana, Galletta, Eva, Bertomoro, Antonella
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Aged, 80 and over
Biology and Life Sciences
Bleeding
Blood diseases
Blood platelets
Child
Child, Preschool
Female
Health risk assessment
Hemostasis
Heterogeneity
Humans
Infant
Male
Medicine and Health Sciences
Middle Aged
Mutation
Patients
Physical Sciences
Platelet Count
Pregnancy
Protein Multimerization
Protein Structure, Quaternary
Ristocetin
Thrombocytopenia
von Willebrand Disease, Type 2 - metabolism
von Willebrand Disease, Type 2 - physiopathology
Von Willebrand factor
von Willebrand Factor - chemistry
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Most, but not all patients with type 2B von Willebrand disease (VWD)-which features gain-of-function mutations in the A1 domain of von Willebrand factor (VWF)-have no circulating large VWF multimers. Similarities and differences were analysed in 33 type 2B patients, 12 with a normal and 21 with an abnormal multimer pattern, to see whether they should be considered separately. The minimum aggregating dose of ristocetin was similarly reduced in both patient groups, and modulated by their underlying VWF mutations. Platelet VWF content was normal in all patients lacking in large multimers, but sometimes reduced in those with a normal multimer pattern. All the former patients and none of the latter had persistent or transient thrombocytopenia. A short VWF half-life (affecting plasma VWF levels) was seen in both groups, but more pronounced in patients without large multimers. Bleeding scores were also high in all patients, but more so in those without large multimers, apparently regardless of their platelet count. The marked phenotypic heterogeneity of type 2B VWD concerns not only patients' VWF multimer pattern, but also their bleeding risk, and consequently their appropriate treatment too. Hence the need to clearly distinguish between type 2B VWD with normal or abnormal VWF multimers.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0179566