Department of Pediatrics, McMaster University, Hamilton, ON, Canada.
J Pediatr Hematol Oncol. 2022 Mar 1;44(2):e442-e443. doi: 10.1097/MPH.0000000000002299.
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.
遗传性蛋白 S（PS）缺乏症是一种罕见的常染色体显性遗传病，增加了静脉血栓栓塞的风险。PROS1 基因 501 密码子处的 PS Heerlen 多态性被认为是一种意义不确定的变异。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梅特纳综合征的青少年女性，携带 PS Heerlen 杂合突变，导致轻度 PS 缺乏和静脉血栓栓塞。由于存在这种不可改变的风险因素，该患者接受了长期抗凝治疗，并强烈考虑进行终身预防。
