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  • Title: A Case of a Pediatric Patient With Protein S Heerlen Polymorphism and Deep Venous Thrombosis.
    Author: Kacar M, Bhatt M.
    Journal: J Pediatr Hematol Oncol; 2022 Mar 01; 44(2):e442-e443. PubMed ID: 34486549.
    Abstract:
    Hereditary protein S (PS) deficiency is a rare autosomal dominant disorder with increased risk of venous thromboembolism. The PS Heerlen polymorphism at codon 501 of the PROS1 gene is considered a variant of uncertain significance. It has since been shown that PS Heerlen has a reduced half-life, resulting in reduced levels of free PS. We report a case of an adolescent female with May Thurner syndrome and heterozygous PS Heerlen mutation resulting in a mild PS deficiency and venous thromboembolism. With this nonmodifiable risk factor, the patient received prolonged anticoagulation with strong consideration for lifelong prophylaxis.
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