Abstract

Background: Pulmonary embolism is rare in children, and most of them have high-risk factors, such as antiphospholipid syndrome, intravenous catheterization, fracture bed rest, etc. For children with pulmonary embolism without clear inducement, hereditary thrombophilia should be considered. Genetic protein S deficiency (PSD) is a kind of thrombophilia, which is caused by the mutation of PROS 1 gene, resulting in an increased tendency to thrombosis.
Methods: The diagnosis of the two cases was made after detecting based on Thrombophilia screening and Sanger sequencing in clinical laboratory.
Results: Sanger sequencing found that case 2 and case 1 genotypes were the same, case 1 sister and grandfather carried c.200a>c (p.e67a) mutation, and case 1 aunt and grandmother did not carry PROS1 gene mutation. Case 1 received anticoagulation therapy for 3 months, and case 2 also received anticoagulation therapy for 3 months. During the 1 year follow-up, no new thrombotic events and no adverse reactions such as bleeding were observed in both patients.
Conclusions: For children with pulmonary embolism without clear risk factors, PSD should be considered, and protein S activity should be tested before receiving anticoagulant drugs.

DOI: 10.7754/Clin.Lab.2023.230629