Diagnostik und Therapie der aplastischen Anämie – Update 2021

Was ist neu?

Diagnostik Telomeropathie-Erkrankungen und andere konstitutionelle Ursachen werden zunehmend auch im Erwachsenenalter als AA-Ursache erkannt. Screening-Untersuchungen, Erfassung der Familiengeschichte und körperliche Untersuchung auf mögliche Hinweise konstitutioneller Syndrome sind daher auch bei erwachsenen AA-Patienten durchzuführen.

Therapie Eine Stammzelltransplantation von unverwandten 10/10-Spendern ergibt fast ebenso gute Ergebnisse wie von Familienspendern bei Patienten unter 30. Eltrombopag ist zur Behandlung von refraktären Patienten mit schwerer aplastischer Anämie zugelassen. Patienten mit Chromosom-7-Anomalien sollen kein Eltrombopag erhalten; vor Eltrombopag-Therapie muss ein zytogenetisches Screening erfolgen. Patienten mit seltenen Erkrankungen wie der AA sollte die Anbindung an Patientenselbsthilfegruppen empfohlen werden und die Lebensqualität muss bei allen Therapieformen adäquat erfasst und gewürdigt werden.

Ausblick Eine immunsuppressive Therapie mit ATG und CSA wird zukünftig mit Eltrombopag kombiniert werden. Romiplostim, ein weiterer TRA, ist ebenfalls wirksam bei AA. Die differenzierte molekulare Diagnostik wird die Pathophysiologie klonaler Evolution weiter verstehbar machen.

Abstract

The landscape of aplastic anemia (AA) is changing as new therapeutic options become available and sophistic diagnostics enable us to decipher various subgroups of bone marrow failure syndromes (BMFS) such as telomeropathies and other constitutional diseases with manifestations beyond childhood.

This article briefly summarizes developments of the last few years with potential clinical impact and puts it into perspective. Focus is given to the growing list of inherited BMFS and the need to e. g. screen patients at all ages for telomeropathies before initiation of treatment as part of routine evaluation of AA. The usage of next generation sequencing (NGS) to differentiate between AA and malignancies such as myelodysplatic syndrome (MDS) and the need to watch out for potential clonal evolution during and after treatment is also briefly discussed. Recent data on combinations of immunosuppressive therapy (IST) with thrombopoietin receptor agonists (TRA) for patients with severe AA as well as newer data with TRA mono-therapy for patients with moderate AA are presented. Finally the importance of supportive measures, structures and quality of life aspects are highlighted.

Schlüsselwörter

aplastische Anämie - Telomeropathie - Thrombopoetin-Rezeptor-Agonisten - Lebensqualität - klonale Evolution

Key words

aplastic anemia - telomeropathies - thrombopoietin receptor agonists - quality of life - clonal evolution

Publication History

Article published online:
29 March 2021

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