Prothrombin deficiency with recurrent subretinal hemorrhage.

Autor:	Qama E; Department of Pathology, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, US., Krishnamurthy K; Department of Pathology, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, US., Mulvey JJ; Department of Pathology, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, US., Liu KG; Department of Oncology, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, US., Fernandes DL; Department of Oncology, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, US., Fang Y; Department of Pathology, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, US.
Jazyk:	angličtina
Zdroj:	Laboratory medicine [Lab Med] 2024 Jul 30. Date of Electronic Publication: 2024 Jul 30.
DOI:	10.1093/labmed/lmae057
Abstrakt:	Ocular hemorrhage has been recorded in congenital factor deficiencies like hemophilia A, but it has never been documented in prothrombin deficiency. Here, we describe an unusual case of sudden vision loss in the right eye caused by subretinal hemorrhage following a coughing episode in a 67-year-old woman. Notably, the patient underwent left eye enucleation 12 years previously under similar circumstances due to subretinal hemorrhage. During the interview, it was discovered that the patient had a history of prothrombin deficiency, which was subsequently confirmed through laboratory testing. Aside from recurrent ocular bleeding and 1 instance of bleeding following dental extraction in childhood, there is no other history of bleeding. Subsequent molecular studies revealed a homozygous missense mutation at G1499A (Arg500Gln), a variant previously identified as R457Q. Although the likelihood of prothrombin deficiency initiating subretinal hemorrhage is low, it is likely to worsen retinal hemorrhage and contribute to difficulty in controlling bleeding. A comprehensive coagulation workup is essential in patients with ocular hemorrhage. Determining factor II activity should be included in individuals exhibiting variably prolonged prothrombin time and activated partial thromboplastin time with correction in mixing studies. Additional investigations, such as genetic sequencing and family studies, are advised for those with isolated low prothrombin levels. (© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
Databáze:	MEDLINE
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