A new case of platelet‐type von Willebrand disease supports the recent findings of gain‐of‐function GP1BA variants outside the C‐terminal disulphide loop enhances affinity for von Willebrand factor

Summary Platelet‐type von Willebrand disease (PT‐VWD) is a rare autosomal dominant bleeding disorder characterized by an increased ristocetin‐induced platelet aggregation (RIPA) and enhanced affinity of platelet glycoprotein Ibα (GPIbα) to von Willebrand factor (VWF). To date, only seven variants ha...

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Published in:British journal of haematology 2023-11, Vol.203 (4), p.673-677
Main Authors: Monteiro, Catarina, Gonçalves, Ana, Pereira, Mónica, Lau, Catarina, Morais, Sara, Santos, Rosário
Format: Article
Language:English
Subjects:
Affinity
Bleeding
GoF variants
GPIbα
Hematology
Hereditary diseases
Phenotypes
Platelet aggregation
platelet‐type von Willebrand disease
RIPA
Ristocetin
Thrombocytopenia
Von Willebrand factor
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Summary:Summary Platelet‐type von Willebrand disease (PT‐VWD) is a rare autosomal dominant bleeding disorder characterized by an increased ristocetin‐induced platelet aggregation (RIPA) and enhanced affinity of platelet glycoprotein Ibα (GPIbα) to von Willebrand factor (VWF). To date, only seven variants have been described with this gain‐of‐function effect, most of them located in the C‐terminal disulphide loop of the VWF‐binding domain of GPIbα. We herein describe a patient with moderate bleeding symptoms, mild thrombocytopenia and increased RIPA. By direct sequencing of GP1BA, a novel leucine‐rich repeat heterozygous variant was identified (c.580C>T; predictably p.Leu194Phe), strongly suggestive as being the underlying cause for the PT‐VWD phenotype of our patient.
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.19025