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Hamostaseologie 2025; 45(04): 347-354
DOI: 10.1055/a-2628-5488
Review Article

“Diagnosis of Inherited Platelet Disorders”: Update of the Interdisciplinary S2k-Guideline [[*]] of the Permanent Pediatric Commission of the Society of Thrombosis and Haemostasis Research (GTH e.V.)

“Diagnose von angeborenen Thrombozytenfunktionsstörungen - Thrombozytopathien”: Aktualisierung der interdisziplinären S2k-Leitlinie [*] der Ständigen Kommission Pädiatrie der Gesellschaft für Thrombose- und Hämostaseforschung e. V.

Authors

  • Jennifer Gebetsberger

    1   Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria

  • Ralf Knöfler

    2   Department of Pediatric Hemostaseology, Medical Faculty and University Hospital Carl Gustav Carus of Technische Universität Dresden, Dresden, Germany

  • Werner Streif

    1   Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria
    • on behalf of the ThromKidplus study group#
    ,
    and mandated experts$ from other participating professional societies
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Erratum: “Diagnosis of Inherited Platelet Disorders”: Update of the Interdisciplinary S2k-Guideline [*] of the Permanent Pediatric Commission of the Society of Thrombosis and Haemostasis Research (GTH e.V.)Hamostaseologie 2025; 45(04): e1-e1
DOI: 10.1055/s-0045-1811974

Abstract

Inherited platelet disorders (IPD) are a heterogeneous group of diseases causing bleeding, which are often challenging to diagnose. To improve the diagnostic process for these disorders, the ThromKidplus study group of the Permanent Pediatric Commission of the Society for Thrombosis and Haemostasis Research (GTH) has updated the AWMF Guideline for the “Diagnosis of Inherited Platelet Disorders” (AWMF Registry Number 086–003).

Key updates in the guideline include a detailed diagnostic algorithm, emphasizing the use of standardized questionnaires, thorough patient history, and specific laboratory tests such as light transmission aggregometry (LTA), flow cytometry, and genetic testing. Updated guidelines for pre-analytics standardize sample preparation and handling to ensure reliable test results. Updated protocols for aggregometry and flow cytometry aim to enhance diagnostic accuracy. The integration of next-generation sequencing (NGS) provides comprehensive genetic analysis, and a new chapter on future developments highlights emerging technologies and research fields.

This guideline supports the diagnosis of IPD close to the patient's residence, limits the diagnostic process to essential steps, and assists in counseling affected individuals and their families, ensuring that the diagnosis provides especially quality of life benefits to the patient.

Keywords

inherited platelet disorders - guideline - diagnosis

Authors and Coordinators

The updated guideline was created under the overall responsibility of Werner Streif, Ralf Knöfler, and Jennifer Gebetsberger. Section coordinators and authors for the various chapters include:


• Diagnostic Algorithm: Doris Böckelmann, Jennifer Gebetsberger, Susanne Holzhauer, Beate Kehrel, Ralf Knöfler, Martin Olivieri, Werner Streif, and Barbara Zieger.


• Pre-analytics: Kerstin Jurk and Barbara Zieger.


• Aggregometry: Karina Althaus, Ingvild Birschmann, Kerstin Jurk, Michael Krause, Ralf Knöfler, Florian Prüller, and Oliver Tiebel.


• Flow Cytometry: Oliver Andres, Kerstin Jurk, Kristina Mott, Harald Schulze, and Barbara Zieger.


• Immunofluorescence Microscopy: Karina Althaus and Tamam Bakchoul.


• Specialized Analyses for Platelet Function Diagnostics: Lorenzo Alberio, Kerstin Jurk, and Beate Kehrel.


• Molecular Genetic Methods: Doris Böckelmann, Jennifer Gebetsberger, Kristina Mott, Anna Pavlova, Harald Schulze, and Barbara Zieger.


• Future Developments: Frauke Bergmann, Jennifer Gebetsberger, Ralf Knöfler, and Werner Streif.


* AWMF-Register Nr. 086-003.




Publication History

Received: 12 November 2024

Accepted: 05 June 2025

Article published online:
12 August 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 

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