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The diagnostic assessment of platelet function defects$apart 2: update on platelet disorders

Congenital platelet disorders are rare and targeted treatment is usually not possible. Inherited platelet function disorders (iPFDs) can affect surface receptors and multiple platelet responses such as defects of platelet granules, signal transduction, and procoagulant activity. If iPFDs are also as...

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Main Authors: Althaus, Karina (Author) , Hoepner, Gero (Author) , Zieger, Barbara (Author) , Prüller, Florian (Author) , Pavlova, Anna (Author) , Boeckelmann, Doris (Author) , Birschmann, Ingvild (Author) , Müller, Jens (Author) , Rühl, Heiko (Author) , Sachs, Ulrich (Author) , Kehrel, Beate (Author) , Streif, Werner (Author) , Bugert, Peter (Author) , Zaninetti, Carlo (Author) , Cooper, Nina (Author) , Schulze, Harald (Author) , Knöfler, Ralf (Author) , Bakchoul, Tamam (Author) , Jurk, Kerstin (Author)
Format: Article (Journal)
Language:English
Published: Juni 2025
In: Hämostaseologie
Year: 2025, Volume: 45, Issue: 3, Pages: 243-253
ISSN:2567-5761
DOI:10.1055/a-2404-0216
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1055/a-2404-0216
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Author Notes:Karina Althaus, Gero Hoepner, Barbara Zieger, Florian Prüller, Anna Pavlova, Doris Boeckelmann, Ingvild Birschmann, Jens Müller, Heiko Rühl, Ulrich Sachs, Beate Kehrel, Werner Streif, Peter Bugert, Carlo Zaninetti, Nina Cooper, Harald Schulze, Ralf Knöfler, Tamam Bakchoul, Kerstin Jurk
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Summary:Congenital platelet disorders are rare and targeted treatment is usually not possible. Inherited platelet function disorders (iPFDs) can affect surface receptors and multiple platelet responses such as defects of platelet granules, signal transduction, and procoagulant activity. If iPFDs are also associated with a reduced platelet count (thrombocytopenia), it is not uncommon to be misdiagnosed as immune thrombocytopenia. Because the bleeding tendency of the different platelet disorders is variable, a correct diagnosis of the platelet defect based on phenotyping, function analysis, and genotyping is essential, especially in the perioperative setting. In the case of a platelet receptor deficiency, such as Bernard-Soulier syndrome or Glanzmann thrombasthenia, not only the bleeding tendency but also the risk of isoimmunization after platelet transfusions or pregnancy has to be considered. Platelet granule disorders are commonly associated with either intrinsically quantitative or qualitative granule defects due to impaired granulopoiesis, or granule release defects, which can also affect additional signaling pathways. Functional platelet defects require expertise in the clinical bleeding tendency in terms of the disorder when using antiplatelet agents or other medications that affect platelet function. Platelet defects associated with hematological-oncological diseases require comprehensive information about the patient including the clinical implication of the genetic testing. This review focuses on genetics, clinical presentation, and laboratory platelet function analysis of iPFDs with or without reduced platelet number. As platelet defects affecting the cytoskeleton usually show thrombocytopenia, but less impaired or normal platelet functional responses, they are not specifically addressed.
Item Description:Artikel online veröffentlicht: 27. Januar 2025
Gesehen am 24.07.2025
Physical Description:Online Resource
ISSN:2567-5761
DOI:10.1055/a-2404-0216

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