Treatment of Inherited Platelet Disorders: Current Status and Future Options

Abstract

Inherited platelet disorders (IPDs) comprise a heterogeneous group of entities that manifest with variable bleeding tendencies. For successful treatment, the underlying platelet disorder, bleeding severity and location, age, and sex must be considered in the broader clinical context. Previous information from the AWMF S2K guideline #086–004 (www.awmf.org) is evaluated for validity and supplemented by information of new available and future treatment options and clinical scenarios that need specific measures. Special attention is given to the treatment of menorrhagia and risk management during pregnancy in women with IPDs. Established treatment options of IPDs include local hemostatic treatment, tranexamic acid, desmopressin, platelet concentrates, and recombinant activated factor VII. Hematopoietic stem cell therapy is a curative approach for selected patients. We also provide an outlook on promising new therapies. These include autologous hematopoietic stem cell gene therapy, artificial platelets and nanoparticles, and various other procoagulant treatments that are currently tested in clinical trials in the context of hemophilia.

Zusammenfassung

Angeborene Störungen der Thrombozyten umfassen eine heterogene Gruppe von Erkrankungen, die mit variabler Blutungsneigung einhergehen. Für eine erfolgreiche Behandlung müssen die zugrundeliegende Thrombozytenstörung, Blutungsschwere und -lokalisation, Alter und Geschlecht im klinischen Kontext berücksichtigt werden. Zuvor veröffentlichte Informationen aus der AWMF S2K-Leitlinie #086–004 (www.awmf.org) werden auf ihre Gültigkeit hin überprüft und durch Informationen zu neu verfügbaren und zukünftigen Behandlungsmöglichkeiten, sowie klinischen Szenarien, die spezifische Maßnahmen erfordern, ergänzt. Besonderes berücksichtigt werden die Behandlung von Menorrhagien, sowie das Risikomanagement während der Schwangerschaft bei Frauen mit angeborenen Thrombozytenerkrankungen. Etablierte Behandlungsmöglichkeiten umfassen die lokale Blutstillung, sowie die Verabreichung von Tranexamsäure, Desmopressin, Thrombozytenkonzentraten und rekombinantem, aktivierten Faktor VII. Die hämatopoetische Stammzelltherapie ist ein kurativer Ansatz für ausgewählte PatientInnen. Weiters wird ein Ausblick auf vielversprechende neue Therapien gegeben. Dazu gehören die autologe hämatopoetische Stammzell-Gentherapie, künstliche Blutplättchen und Nanopartikel, sowie verschiedene andere prokoagulatorische Behandlungen, die bereits in klinischen Studien zur Behandlung der Hämophilie getestet werden.

Keywords

blood platelet disorder - therapy - inherited platelet disorder

Schlüsselwörter

Angeborene Thrombozytenerkrankung - Therapie

Publication History

Received: 01 February 2023

Accepted: 27 April 2023

Article published online:
23 August 2023

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