Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy

Mülling, Nils; Rosery, Vivian; Reinhardt, H. Christian; Hanoun, Maher

doi:10.1186/s40001-021-00533-7

Artikel / Aufsatz Di., 29. Juni. 2021 CC BY 4.0

Veröffentlicht

Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy

Mülling, Nils ; Rosery, Vivian; Reinhardt, H. Christian ; Hanoun, Maher

Background: Bleeding is the most common complication of oral anticoagulants, due to inadequate dosing.

Case presentation: This report describes the clinical course of a patient who developed severe bleeding under therapy with phenprocoumon, despite an INR in the lower therapeutic range. Strikingly, aPTT was prolonged, while factor IX activity was significantly reduced. Acquired hemophilia was excluded, due to missing detection of inhibitors. Finally, sequencing part of the factor IX gene including nucleotide position c.110 revealed a hemizygous factor IX mutation c.110C > T p (Ala37Val).

Conclusions: In rare cases, missense mutations in factor IX propeptide are associated with severe bleeding complications. The substitution of alanin at position 37 to either valin or threonin (Ala37Val or Ala37Thr) leads to hypersensitivity to vitamin k antagonists.

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Einordnung

Datum der Veröffentlichung:

29.06.2021

URN:

urn:nbn:de:hbz:465-20230713-142907-5

DOI:

10.1186/s40001-021-00533-7

Sprache:

Englisch

Ressourcentyp:

Text

Schlagwörter:

Vitamin K antagonists; Bleeding; Acquired hemophilia; Factor IX mutation

Kollektion:

E-Publikationen

Sachgruppen der Deutschen Nationalbibliographie:

610 Medizin, Gesundheit

Einrichtung:

Medizinische Fakultät, Universitätsklinikum Essen, Klinik für Nephrologie

Einrichtung:

Medizinische Fakultät, Universitätsklinikum Essen, Innere Klinik (Tumorforschung)

Einrichtung:

Medizinische Fakultät, Universitätsklinikum Essen, Klinik für Hämatologie und Stammzelltransplantation

Förderung:

The publication of this article was supported by the Publication Fund of the University of Duisburg-Essen.

Informationen zur Erstveröffentlichung:

Mülling, N., Rosery, V., Reinhardt, H.C. et al. Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy. Eur J Med Res26, 63 (2021). https://doi.org/10.1186/s40001-021-00533-7

Published 29 June 2021

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