How Do I Counsel Parents of a Newly Diagnosed Boy with Haemophilia A?

Abstract

With the recent approval of improved therapeutic options for patients suffering from haemophilia A such as the extended half-life, recombinant factor concentrates, non-factor VIII replacement therapies like Emicizumab and after consideration of the currently running clinical trials investigating even more advanced approaches, counselling of parents of a newly diagnosed boy with haemophilia A has not become less demanding. Parents need to be informed about the pathophysiology, the chronic nature and the potential risks that are commonly associated with this disease and its treatment, depending on disease severity. Above all, the safety and efficacy of the medicinal drug(s) to be used are of utmost importance, given the impact of non-virus-inactivated plasma-derived factor concentrates in the 1980s. As a consequence, the subsequent development and registration of recombinant clotting factors from mammalian, and recently, even human, cell cultures are seen by many as a breakthrough, although, regarding the product-type-dependent development of inhibitors in previously untreated patients, the discussion is still open. Clinical data for the humanised bispecific antibody Emicizumab in paediatric patients below 2 years of age without inhibitors who suffer from severe haemophilia A are currently limited.

Zusammenfassung

Mit der Zulassung der halbwertszeitverlängerten, rekombinanten Faktorkonzentrate, der Zulassung des nicht auf Faktor VIII Substitution basierenden Emicizumab und unter Berücksichtigung der zurzeit laufenden klinischen Studien ist die Beratung der Eltern eines Jungen mit neu diagnostizierter Hämophilie A nicht einfacher geworden. Die Eltern sollten über die Pathophysiologie der Erkrankung und - unter Berücksichtigung der Schwere der Erkrankung - die damit und mit der Behandlung verbundenen Risiken und den chronischen Verlauf informiert werden. Die Sicherheit und Wirksamkeit des zur Behandlung ausgewählten Medikaments ist von allergrößter Bedeutung, vor allem unter Berücksichtigung der Auswirkungen der Gabe nicht virusinaktivierter, plasmatischer Faktorenkonzentrate in den 80-er Jahren. Die darauffolgende Entwicklung rekombinanter Faktorenkonzentrate aus Säugetierzelllinien (und kürzlich aus humanen Zelllinien) wird von vielen als Durchbruch angesehen. Inwieweit dies auch für die Behandlung zuvor unbehandelter Patienten zutrifft und inwiefern es die Entwicklung von Hemmkörpern beeinflusst, ist noch nicht abschließend geklärt. Die Menge an klinischen Daten für den humanisierten, bispezifischen Antikörper Emicizumab für pädiatrische Patienten unter 2 Jahren, die an schwerer Hämophilie A ohne Inhibitoren leiden, ist zurzeit noch begrenzt.

Keywords

haemophilia A - parents - counselling

Schlüsselwörter

Hämophilie A - Eltern - Beratung

Authors' Contributions

K.K. wrote the manuscript, C.B. and M.O. have read and approved the final manuscript.

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