Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism

Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207...

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Autores principales: Xie, Weijia, Liu, Zhenjie, Chen, Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Subclavian and internal mammary artery aneurysm
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765183/
https://www.ncbi.nlm.nih.gov/pubmed/29349439
http://dx.doi.org/10.1016/j.jvscit.2017.11.002
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author Xie, Weijia
Liu, Zhenjie
Chen, Bing
author_facet Xie, Weijia
Liu, Zhenjie
Chen, Bing
author_sort Xie, Weijia
collection PubMed
description Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207G>T, p.G403W) by genetic testing. Results from this case suggest that the inherited PC deficiency due to the PROC mutations may cause recurrent VTE. Long-term anticoagulant therapy may be appropriate for these patients with recurrent VTE and hereditary PC deficiency.
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spelling pubmed-57651832018-01-18 Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism Xie, Weijia Liu, Zhenjie Chen, Bing J Vasc Surg Cases Innov Tech Subclavian and internal mammary artery aneurysm Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207G>T, p.G403W) by genetic testing. Results from this case suggest that the inherited PC deficiency due to the PROC mutations may cause recurrent VTE. Long-term anticoagulant therapy may be appropriate for these patients with recurrent VTE and hereditary PC deficiency. Elsevier 2017-12-18 /pmc/articles/PMC5765183/ /pubmed/29349439 http://dx.doi.org/10.1016/j.jvscit.2017.11.002 Text en © 2017 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Subclavian and internal mammary artery aneurysm
Xie, Weijia
Liu, Zhenjie
Chen, Bing
Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
title Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
title_full Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
title_fullStr Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
title_full_unstemmed Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
title_short Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
title_sort protein c deficiency resulting from two mutations in proc presenting with recurrent venous thromboembolism
topic Subclavian and internal mammary artery aneurysm
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765183/
https://www.ncbi.nlm.nih.gov/pubmed/29349439
http://dx.doi.org/10.1016/j.jvscit.2017.11.002
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