Inherited platelet function disorders

Summary

Inherited platelet function disorders (IPFDs) make up a significant proportion of congenital bleeding diatheses, but they remain poorly understood and often difficult to diagnose. Therefore, a rational diagnostic approach, based on a standardized sequence of laboratory tests, with consecutive steps of increasing level of complexity, plays a crucial role in the diagnosis of most IPFDs.

In this review we discuss a diagnostic approach through platelet phenotyping and genotyping and we give an overview of the options for the management of bleeding in these disorders and an account of the few systematic studies on the bleeding risk associated with invasive procedures and its treatment.

Zusammenfassung

Angeborene Plättchenfunktionsstörungen (IPFD) machen einen Großteil der kongenitalen Gerinnungsstörungen aus, sie werden aber nach wie vor kaum verstanden und sind oft schwierig zu diagnostizieren. Daher spielt ein rationales diagnostisches Vorgehen, basierend auf einer standardisierten Abfolge von Labor-untersuchungen mit konsekutiven, immer komplexer werdenden Schritten, eine zentrale Rolle bei der Diagnose der meisten IPFD.

In dieser Übersicht diskutieren wir einen diagnostischen Ansatz mit Phäno- und Geno-typisierung der Plättchen, geben einen Überblick über Möglichkeiten, wie Blutungen bei diesen Erkrankungen zu managen sind, und berichten über die wenigen systematischen Studien zum Blutungsrisiko in Zusammenhang mit invasiven Maßnahmen sowie deren Behandlung.

Keywords

Bleeding - diagnostic algorithm - inherited platelet function disorders - prophylaxis and Treatment

Schlüsselwörter

Blutung - diagnostischer Algorithmus - ange -borene Plättchenfunktionsstörungen - Prophylaxe und Behandlung

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