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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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2022-08, Vol.14 (8)
Main Authors: Agarwal S, Ankush, Santhanam, Jennie, K, Arun, Degapudi, Sruthi, K, Subramaniyan
Format: Article
Language:English
Subjects:
Antibodies
Anticoagulants
Antigens
Case reports
Glycoproteins
Hematology
Hemoglobin
Homocysteine
Internal Medicine
Mutation
Neurology
Patients
Proteins
Sinuses
Thromboembolism
Thrombosis
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Summary: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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.28221