Indication for allogeneic stem cell transplantation in Glanzmann’s thrombasthenia

 

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Summary

Glanzmann’s thrombasthenia (GT) is an autosomal recessive disorder characterized by a lack of thrombocyte aggregation due to the absence of thrombocyte glycoproteins IIb and αIIbβ3. The role of haematopoietic stem cell transplantation (HSCT) in GT remains controversial. However, HSCT offers the only curative approach for patients with a severe clinical phenotype.

In this review, we will discuss the limitation of current status evidence and the specific risk of GT, in particular the alloimmunization and refractoriness to thrombocyte infusions. 19 successful HSCT in 18 GT type I patients have been reported. Mean age at transplantation was 5 years. All patients are still alive. The majority received sibling bone marrow transplant with busulfan and cyclophosphamid conditioning. GvHD incidence was within the normal range, but 10 patients showed alloimmunization of thrombocytes. Median follow up is 25 months.

Zusammenfassung

Die Thrombasthenia Glanzmann (GT) ist eine autosomal rezessive Erkrankung, bei der die Thrombozytenaggregation durch einen fehlenden bzw. funktionell inaktiven Glykoprotein-αIIbβ3-Komplex stark vermindert ist. Die allogene Stammzelltransplantation (HSCT) stellt bei Patienten mit einem schweren Phänotyp die einzige kurative Therapieoption dar. Ihre Indikation wird kontrovers gesehen. In dieser Übersicht werden Datenlage und spezifische Risiken bei GT diskutiert, insbesondere das Auftreten von Alloimmunisation und Refraktivität gegenüber Thrombozytenkonzentraten. Über 19 HSCT bei 18 GT-Typ-1-Patienten wurde in der Literatur berichtet. Das mittlere Alter bei Transplantation lag bei fünf Jahren. Der Mehrheit wurde Knochenmark eines HLA-identen Geschwisters transplantiert nach Konditionierung mit Busulfan und Cyclophosphamid. Die GvHD-Inzidenz lag im durchschnittlichen Bereich, jedoch trat bei zehn GT-Patienten eine Alloimmunisation in Bezug auf Thrombozyten auf. Die durchschnittliche Nachbeobachtungszeit liegt bei 25 Monaten.

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