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.

中文翻译：

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患有蛋白质 S Heerlen 多态性和深静脉血栓形成的儿科患者一例。

遗传性蛋白 S (PS) 缺乏症是一种罕见的常染色体显性遗传疾病，会增加静脉血栓栓塞的风险。PROS1 基因密码子 501 处的 PS Heerlen 多态性被认为是意义不确定的变异。此后的研究表明，PS Heerlen 的半衰期缩短，导致游离 PS 水平降低。我们报告了一例患有 May Thurner 综合征和杂合 PS Heerlen 突变的青春期女性病例，导致轻度 PS 缺乏和静脉血栓栓塞。由于这种不可改变的危险因素，患者接受了长期抗凝治疗，并强烈考虑终身预防。