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Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy
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,...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243751/ https://www.ncbi.nlm.nih.gov/pubmed/34187575 http://dx.doi.org/10.1186/s40001-021-00533-7 |
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author | Mülling, Nils Rosery, Vivian Reinhardt, H. Christian Hanoun, Maher |
author_facet | Mülling, Nils Rosery, Vivian Reinhardt, H. Christian Hanoun, Maher |
author_sort | Mülling, Nils |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8243751 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-82437512021-06-30 Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy Mülling, Nils Rosery, Vivian Reinhardt, H. Christian Hanoun, Maher Eur J Med Res Case Report 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. BioMed Central 2021-06-29 /pmc/articles/PMC8243751/ /pubmed/34187575 http://dx.doi.org/10.1186/s40001-021-00533-7 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Mülling, Nils Rosery, Vivian Reinhardt, H. Christian Hanoun, Maher Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy |
title | Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy |
title_full | Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy |
title_fullStr | Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy |
title_full_unstemmed | Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy |
title_short | Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy |
title_sort | factor ix p.a37v mutation causes severe bleeding in a patient with phenprocoumon therapy |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243751/ https://www.ncbi.nlm.nih.gov/pubmed/34187575 http://dx.doi.org/10.1186/s40001-021-00533-7 |
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