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Hereditary factor XII deficiency in an adult patient: A case report

Factor XII deficiency is a rare autosomal recessive health condition usually discovered incidentally during routine coagulation screening before surgery after investigating a prolongation of the activated partial thromboplastin time. This is a case of a 29-year-old man from Saudi Arabia who was sele...

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Autores principales: Al-Ansari, Rehab Y, Al-Yami, Fatimah, Almulhim, Ghayah, Woodman, Alexander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393349/
https://www.ncbi.nlm.nih.gov/pubmed/36003888
http://dx.doi.org/10.1177/2050313X221118728
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author Al-Ansari, Rehab Y
Al-Yami, Fatimah
Almulhim, Ghayah
Woodman, Alexander
author_facet Al-Ansari, Rehab Y
Al-Yami, Fatimah
Almulhim, Ghayah
Woodman, Alexander
author_sort Al-Ansari, Rehab Y
collection PubMed
description Factor XII deficiency is a rare autosomal recessive health condition usually discovered incidentally during routine coagulation screening before surgery after investigating a prolongation of the activated partial thromboplastin time. This is a case of a 29-year-old man from Saudi Arabia who was selectively admitted to the surgical department to treat a perianal fistula and found incidentally prolonged activated partial thromboplastin time and factor XII deficiency. Examination of the skin revealed no bruising, petechiae, or ecchymosis. Systemic examination was normal. Laboratory examination showed an activated partial thromboplastin time > 160 s (normal between 27 and 38), which was repeated twice with low factor XII < 5.7% (73–121). Other factors and the work of hemostasis were within the normal range. Surgery was delayed at the request of the patient. One year later, the patient was admitted to the clinic after surgery without bleeding and did not require factor correction before or after surgery. However, treating factor XII–deficient patients specifically for preoperative preparation is challenging. Therefore, this rare case should be recorded and reported the same way as a number of previously rarely reported cases.
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spelling pubmed-93933492022-08-23 Hereditary factor XII deficiency in an adult patient: A case report Al-Ansari, Rehab Y Al-Yami, Fatimah Almulhim, Ghayah Woodman, Alexander SAGE Open Med Case Rep Case Report Factor XII deficiency is a rare autosomal recessive health condition usually discovered incidentally during routine coagulation screening before surgery after investigating a prolongation of the activated partial thromboplastin time. This is a case of a 29-year-old man from Saudi Arabia who was selectively admitted to the surgical department to treat a perianal fistula and found incidentally prolonged activated partial thromboplastin time and factor XII deficiency. Examination of the skin revealed no bruising, petechiae, or ecchymosis. Systemic examination was normal. Laboratory examination showed an activated partial thromboplastin time > 160 s (normal between 27 and 38), which was repeated twice with low factor XII < 5.7% (73–121). Other factors and the work of hemostasis were within the normal range. Surgery was delayed at the request of the patient. One year later, the patient was admitted to the clinic after surgery without bleeding and did not require factor correction before or after surgery. However, treating factor XII–deficient patients specifically for preoperative preparation is challenging. Therefore, this rare case should be recorded and reported the same way as a number of previously rarely reported cases. SAGE Publications 2022-08-17 /pmc/articles/PMC9393349/ /pubmed/36003888 http://dx.doi.org/10.1177/2050313X221118728 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Al-Ansari, Rehab Y
Al-Yami, Fatimah
Almulhim, Ghayah
Woodman, Alexander
Hereditary factor XII deficiency in an adult patient: A case report
title Hereditary factor XII deficiency in an adult patient: A case report
title_full Hereditary factor XII deficiency in an adult patient: A case report
title_fullStr Hereditary factor XII deficiency in an adult patient: A case report
title_full_unstemmed Hereditary factor XII deficiency in an adult patient: A case report
title_short Hereditary factor XII deficiency in an adult patient: A case report
title_sort hereditary factor xii deficiency in an adult patient: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393349/
https://www.ncbi.nlm.nih.gov/pubmed/36003888
http://dx.doi.org/10.1177/2050313X221118728
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