2011
DOI: 10.1160/th10-08-0523
|View full text |Cite
|
Sign up to set email alerts
|

Frequency of Platelet type versus Type 2B von Willebrand Disease

Abstract: Less than 50 patients are reported with platelet type von Willebrand disease (PT-VWD) worldwide. Several reports have discussed the diagnostic challenge of this disease versus the closely similar disorder type 2B VWD. However, no systematic study has evaluated this dilemma globally. Over three years, a total of 110 samples/data from eight countries were analysed. A molecular approach was utilised, analysing exon 28 of the von Willebrand factor (VWF) gene, and in mutation negative cases the platelet GP1BA gene.… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1

Citation Types

2
59
0

Year Published

2011
2011
2016
2016

Publication Types

Select...
7
2

Relationship

1
8

Authors

Journals

citations
Cited by 51 publications
(61 citation statements)
references
References 41 publications
2
59
0
Order By: Relevance
“…Platelettype pseudo-VWD is due to mutations in GP1BA, the gene that encodes the GP1ba receptor (instead of mutations in VWF) such that it binds to VWF spontaneously and at a much higher rate than the normal receptor. 55 The response of the LD-RIPA with either patient's plasma and fixed platelets, or patient's platelets and normal plasma, allows for the identification of the defect. Although the treatment of bleeding in VWD type 2B is with VWF concentrates, in the platelet-type pseudo-VWD, platelet transfusions are the treatment of choice.…”
Section: Vwd Type 2bmentioning
confidence: 99%
“…Platelettype pseudo-VWD is due to mutations in GP1BA, the gene that encodes the GP1ba receptor (instead of mutations in VWF) such that it binds to VWF spontaneously and at a much higher rate than the normal receptor. 55 The response of the LD-RIPA with either patient's plasma and fixed platelets, or patient's platelets and normal plasma, allows for the identification of the defect. Although the treatment of bleeding in VWD type 2B is with VWF concentrates, in the platelet-type pseudo-VWD, platelet transfusions are the treatment of choice.…”
Section: Vwd Type 2bmentioning
confidence: 99%
“…We would be interested to hear from other laboratories of their experience in this area. We also reflect that there are occasionally patients identified as putative 2B VWD (or PT-VWD) based on RIPA that do not have an identifiable VWF or platelet glycoprotein Ib mutation identified [14,15], thus raising additional questions about either possible false identification of 2B VWD/PT-VWD or falsenegative genetic analysis.…”
mentioning
confidence: 90%
“…In addition, mutation analysis of VWF and GPIb␣ can identify activating mutations responsible for this disorder. 35,36 Familial studies have identified mutations in MYH9, which codes for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA) and is known to be responsible for the May-Hegglin anomaly and Fechtner, Sebastian, and Epstein syndromes. 37 The presence of Dohlelike bodies in leukocytes on the peripheral smear may be subtle, but the likelihood of detection can be enhanced by immunofluorescence studies for aggregates of NMMHC-IIA and mutation analysis is clinically available to detect changes in MYH9.…”
Section: Normal Platelet Countsmentioning
confidence: 99%