Diagnose der Thrombozytenfunktionsstörungen – eine Herausforderung im Labor

Zusammenfassung

Die Ursache von Thrombozytenfunktionsstörungen kann erblich bedingt sein, aber auch infolge von Begleiterkrankungen und Arzneimittelwirkungen auftreten. Die Thrombozytenfunktionsuntersuchung ist jedoch komplex und kaum standardisiert. Die Bestimmung der Thrombozytenzahl und die morphologische Untersuchung der Blutplättchen sind auch für eine erste Beurteilung der Thrombozytenfunktion extrem hilfreich. Bei Patienten mit Verdacht auf eine Thrombozytenfunktionsstörung sollte nach Bestimmung der Thrombozytenzahl und der ersten morphologischen Untersuchung die Lichttransmissionsaggregometrie (LTA) und wenn möglich die Sekretionsanalyse z.B. in der Durchflusszytometrie bzw. die Immunfluoreszenzmikroskopie durchgeführt werden. Bei auffälligen Befunden können weitere spezialisierte Verfahren wie z.B. die Elektronenmikroskopie und genetische Untersuchungen zielführend sein. Hierbei ist eine Vereinheitlichung von Thrombozytenfunktionsanalysen und Antikörperuntersuchungen zwischen den verschiedenen Laboren extrem wichtig, um die Diagnostik auf diesem Gebiet zu optimieren. Wir möchten uns in diesem Artikel auf die angeborene Thrombozytenfunktionsstörung und die derzeit aktuellen Labormethoden fokussieren, um die zugrunde liegenden molekularen und genetischen Defekte genauer bestimmen zu können. Ziel ist es, eine optimale Anwendung des diagnostischen und therapeutischen Ansatzes für die Behandlung von Patienten mit erblichen Thrombozytenfunktionsstörungen zu ermöglichen.

Abstract

Inherited platelet disorders as well as comorbidities or drugs can cause platelet dysfunctions. Platelet function testing is complex and poorly standardized. Evaluation of platelet count, review of peripheral blood cell morphology and bleeding assessment tools can aid the initial differential diagnosis. For patients requiring further laboratory testing, light transmission aggregometry, secretion assays, and immunofluorescence are the most useful next steps and will direct further specialized testing including flow cytometry, electron microscopy, and genetic diagnostics. Standardization of platelet function analysis and antibody testing is essential and can provide a template for clinical laboratories that will optimize diagnosis and assure high quality results. In this article we will focus on platelet function disorders and on current laboratory methods to identify the underlying molecular and genetic defect. Information provided in this article will allow applying the best possible diagnostic and therapeutic approach to patients with inherited as well as acquired platelet disorders. The aim of this review is to provide information on applying the best possible diagnostic and therapeutic approach to patients with inherited as well as acquired platelet function disorders.

Schlüsselwörter

Thrombozyten - Thrombozytenfunktionsstörung - Blutung - Thrombozytopenie

Key words

platelet - platelet function defect - bleeding - thrombocytopenia

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