A Case of a Pediatric Patient With Protein S Heerlen Polymorphism and Deep Venous Thrombosis Academic Article uri icon

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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.

publication date

  • September 6, 2021