A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female

Here, we report a case of cerebral venous thrombosis in an 18-year-old female. On evaluation, she was found to have type 2 protein S deficiency, which is the rarest form of protein S deficiency and is also known as a qualitative defect. Protein S is primarily synthesized by hepatocytes and undergoes...

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Autores principales: Agarwal S, Ankush, Santhanam, Jennie, K, Arun, Degapudi, Sruthi, K, Subramaniyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491627/
https://www.ncbi.nlm.nih.gov/pubmed/36158342
http://dx.doi.org/10.7759/cureus.28221
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author Agarwal S, Ankush
Santhanam, Jennie
K, Arun
Degapudi, Sruthi
K, Subramaniyan
author_facet Agarwal S, Ankush
Santhanam, Jennie
K, Arun
Degapudi, Sruthi
K, Subramaniyan
author_sort Agarwal S, Ankush
collection PubMed
description Here, we report a case of cerebral venous thrombosis in an 18-year-old female. On evaluation, she was found to have type 2 protein S deficiency, which is the rarest form of protein S deficiency and is also known as a qualitative defect. Protein S is primarily synthesized by hepatocytes and undergoes vitamin K-dependent gamma-carboxylation. Mature protein S circulates in two states: free and bound to the complement component C4b-binding protein (C4b-BP). The free form of protein S acts as a cofactor for activated protein C. This case is unique as here, there is a qualitative effect that is responsible for the manifestations.
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spelling pubmed-94916272022-09-23 A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female Agarwal S, Ankush Santhanam, Jennie K, Arun Degapudi, Sruthi K, Subramaniyan Cureus Internal Medicine Here, we report a case of cerebral venous thrombosis in an 18-year-old female. On evaluation, she was found to have type 2 protein S deficiency, which is the rarest form of protein S deficiency and is also known as a qualitative defect. Protein S is primarily synthesized by hepatocytes and undergoes vitamin K-dependent gamma-carboxylation. Mature protein S circulates in two states: free and bound to the complement component C4b-binding protein (C4b-BP). The free form of protein S acts as a cofactor for activated protein C. This case is unique as here, there is a qualitative effect that is responsible for the manifestations. Cureus 2022-08-20 /pmc/articles/PMC9491627/ /pubmed/36158342 http://dx.doi.org/10.7759/cureus.28221 Text en Copyright © 2022, Agarwal S et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Agarwal S, Ankush
Santhanam, Jennie
K, Arun
Degapudi, Sruthi
K, Subramaniyan
A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female
title A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female
title_full A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female
title_fullStr A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female
title_full_unstemmed A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female
title_short A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female
title_sort case of type 2 protein s deficiency presenting as cerebral venous thrombosis (cvt) in an 18-year-old female
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491627/
https://www.ncbi.nlm.nih.gov/pubmed/36158342
http://dx.doi.org/10.7759/cureus.28221
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