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A Porcine Model of Acute Autologous Pulmonary Embolism
Published on: September 6, 2024
A Rare Case with Pulmonary Embolism and Literature Review
Insights
Pulmonary embolism in children without clear causes may indicate protein S deficiency (PSD). Testing protein S activity before anticoagulation is crucial for accurate diagnosis and treatment of this hereditary thrombophilia.
Area of Science:
- Pediatric Thrombosis
- Hereditary Thrombophilia
- Genetic Disorders
Background:
- Pulmonary embolism (PE) is uncommon in children, often linked to risk factors like antiphospholipid syndrome or catheterization.
- Unexplained pediatric PE warrants investigation for hereditary thrombophilia, such as protein S deficiency (PSD).
- PSD, caused by PROS1 gene mutations, elevates thrombosis risk.
Approach:
- Diagnosed two pediatric cases using thrombophilia screening and Sanger sequencing.
- Identified a specific PROS1 gene mutation (c.200a>c, p.e67a) in affected individuals and family members.
- Administered anticoagulation therapy for 3 months to both patients.
Key Points:
- Sanger sequencing confirmed identical genotypes in both pediatric PE cases.
- Family screening revealed inheritance patterns of the PROS1 gene mutation.
- Patients completed 3-month anticoagulation with no thrombotic events or bleeding complications during 1-year follow-up.
Conclusions:
- Consider PSD in children with PE lacking apparent risk factors.
- Measure protein S activity before initiating anticoagulant therapy in pediatric PE.
- Early diagnosis and management of PSD can prevent recurrent thrombotic events.
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.
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