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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Detalles Bibliográficos
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
Descripción
Sumario: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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