A VARIED PRESENTATION OF HYPERCOAGULABLE STATE IN PATIENTS WITH PROTEIN ’S’ DEFICIENCY
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2018, Vol 5, Issue 24
Abstract
PRESENTATION OF THE CASE Congenital protein S deficiency is an autosomal dominant disease, and the heterozygous state occurs in approximately 2% of unselected patients with venous thromboembolism (VTE). Protein S deficiency is rare in the healthy population without abnormalities. Frequency is approximately one out of 700 based on extrapolations from a study of over 9000 blood donors who were tested for protein C deficiency. When looking at a selected group of patients with recurrent thrombosis or family history of thrombosis, the frequency of protein S deficiency increases to 3-6%. Very rarely, protein S deficiency occurs as a homozygous state, and these individuals have a characteristic thrombotic disorder, purpura fulminans. Purpura fulminans is characterized by small-vessel thrombosis with cutaneous and subcutaneous necrosis, and it appears early in life, usually during the neonatal period or within the first year of life. Studies have indicated that the prevalence of protein S deficiency is particularly high in the Japanese population. The deficiency is rare in population surveys of Caucasians, at approximately 0.03%.
Authors and Affiliations
Utkarsh Rajendra Bhattad, Rahul Prahlad Ladda, Dhivay Mukesh Bathija, Anannya Anand Mukherji
Keywords
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- EP ID EP567021
- DOI 10.18410/jebmh/2018/389
- Views 62
- Downloads 0
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