Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism

Abstract

The prevalence of protein S (PS) deficiency in Asian patients with venous thromboembolism is around 8-30%, higher than that in Caucasian populations. The present study reports the genotypes (including one novel mutation) and phenotypes of children with PS deficiency at a tertiary care institute. A total of six patients were included, three with arterial ischemic stroke, two with cerebral venous sinus thrombosis, and one with deep vein thrombosis. PS mutations were identified in four patients: p.R355C, p.G336D, p.E67A, and p.N188KfsX9. p.N188KfsX9 is a novel mutation with less than 20% PS activity noted in heterozygotes.

Protein S Deficiency with Recurrent Deep Vein Thrombosis and Post Thrombotic Syndrome: A Case Report

“…Protein S, a cofactor of protein C, operates as an inhibitor of factors Va and VIIIa. 1 Protein S deficiency is an autosomal dominant inherited coagulation disorder. However, acquired Protein S deficiency occurs secondary to liver disorders, malignancy, pregnancy, nephrotic syndrome, and acute phase reactions.…”

“… 3 The prevalence of protein S deficiency is 0.03-0.13% in Western countries. 1 Here, we present a case of 40 years old male with protein S deficiency leading to chronic recurrent deep vein thrombosis (DVT) presenting with multiple episodes of post-thrombotic syndrome.…”