PDF icon Download PDF
Hamostaseologie 2025; 45(03): 229-242
DOI: 10.1055/a-2436-5318
Review Article

The Diagnostic Assessment of Inherited Platelet Function Defects - Part 1: An Overview of the Diagnostic Approach and Laboratory Methods

Gero Hoepner
1   Center for Clinical Transfusion Medicine Tuebingen, Tuebingen, Germany
2   Department of Anaesthesiology and Intensive Care, University Hospital Tuebingen, Tuebingen, Germany
,
Karina Althaus
1   Center for Clinical Transfusion Medicine Tuebingen, Tuebingen, Germany
3   Medical Faculty of Tuebingen, Institute for Clinical and Experimental Transfusion Medicine, Tuebingen, Germany
,
Jens Müller
4   Institute of Experimental Haematology and Transfusion Medicine (IHT), University Hospital Bonn, Bonn, Germany
,
Barbara Zieger
5   Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Freiburg, Germany
,
Anna Pavlova
4   Institute of Experimental Haematology and Transfusion Medicine (IHT), University Hospital Bonn, Bonn, Germany
,
Doris Boeckelmann
5   Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Freiburg, Germany
,
Ralf Knöfler
6   Department of Paediatric Haemostaseology, Dresden University Hospital, Dresden, Germany
,
Peter Bugert
7   Medical Faculty Mannheim, Institute of Transfusion Medicine and Immunology, Heidelberg University, Mannheim, Germany
,
Beate Kehrel
8   Department of Anaesthesiology and Intensive Care, Experimental and Clinical Haemostasis, University-Hospital Munster, Münster, Germany
,
Werner Streif
9   Kinder- und Jugendheilkunde, Innsbruck Medical University, Innsbruck, Austria
,
Ingvild Birschmann
10   Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Institut für Laboratoriums- und Transfusionsmedizin, Bochum, Germany
,
Heiko Rühl
4   Institute of Experimental Haematology and Transfusion Medicine (IHT), University Hospital Bonn, Bonn, Germany
,
Ulrich Sachs
11   Institute for Clinical Immunology and Transfusion Medicine, Justus Liebig University, Giessen, Germany
12   Center for Transfusion Medicine and Haemotherapy, Department of Thrombosis and Haemostasis, European Comprehensive Care Center for Haemophilia at Giessen and Marburg University Hospital, Giessen, Germany
,
Florian Prüller
13   Medizinische Universität Graz, KIMCL, Graz, Austria
,
Carlo Zaninetti
14   Institute of Immunology and Transfusion Medicine, Universitätsmedizin Greifswald, Greifswald, Germany
,
Harald Schulze
15   Institute of Experimental Biomedicine, Universitätsklinikum Würzburg, Würzburg, Germany
,
Nina Cooper
11   Institute for Clinical Immunology and Transfusion Medicine, Justus Liebig University, Giessen, Germany
12   Center for Transfusion Medicine and Haemotherapy, Department of Thrombosis and Haemostasis, European Comprehensive Care Center for Haemophilia at Giessen and Marburg University Hospital, Giessen, Germany
,
Kerstin Jurk
16   Center for Thrombosis and Hemostasis, University Medical Center Mainz, Mainz, Germany
,
Tamam Bakchoul
1   Center for Clinical Transfusion Medicine Tuebingen, Tuebingen, Germany
3   Medical Faculty of Tuebingen, Institute for Clinical and Experimental Transfusion Medicine, Tuebingen, Germany
› Author Affiliations
› Further Information
Also available ateRef
  Permissions and Reprints
Preview

Abstract

In this article, our goal is to offer an introduction and overview of the diagnostic approach to inherited platelet function defects (iPFDs) for clinicians and laboratory personnel who are beginning to engage in the field. We describe the most commonly used laboratory methods and propose a diagnostic four-step approach, wherein each stage requires a higher level of expertise and more specialized methods. It should be noted that our proposed approach differs from the ISTH Guidance on this topic in some points. The first step in the diagnostic approach of iPFD should be a thorough medical history and clinical examination. We strongly advocate for the use of a validated bleeding score like the ISTH-BAT (International Society on Thrombosis and Haemostasis Bleeding Assessment Tool). External factors like diet and medication have to be considered. The second step should rule out plasmatic bleeding disorders and von Willebrand disease. Once this has been accomplished, the third step consists of a thorough platelet investigation of platelet phenotype and function. Established methods consist of blood smear analysis by light microscopy, light transmission aggregometry, and flow cytometry. Additional techniques such as lumiaggregometry, immune fluorescence microscopy, and platelet-dependent thrombin generation help confirm and specify the diagnosis of iPFD. In the fourth and last step, genetic testing can confirm a diagnosis, reveal novel mutations, and allow to compare unclear genetics with lab results. If diagnosis cannot be established through this process, experimental methods such as electron microscopy can give insight into the underlying disease.

Keywords

inherited/acquired platelet disorders - thrombocytopenia - diagnosis management - laboratory diagnostics - platelet pathology/inherited

Data Availability

Data generated from this study are available from the corresponding author upon reasonable request.




Publication History

Received: 18 April 2024

Accepted: 08 October 2024

Article published online:
27 January 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

Next part of this series:

The Diagnostic Assessment of Platelet Function Defects - Part 2: Update on Platelet DisordersHamostaseologie 2025; 45(03): 243-253
DOI: 10.1055/a-2404-0216