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Rationalizing thrombophilia screening in children: Insights from a 2019 retrospective study at a tertiary care
Manon Leleu1, Guillaume Nguyen2, Hélène Boutroux1
1Department of Pediatric Hematology, Immunology and Oncology, Centre de Référence des Pathologies Plaquettaires (CRPP), Centre de Référence des cytopénies auto-immunes de l'enfant (CEREVANCE), Armand Trousseau Hospital, AP-HP Sorbonne Université, Paris, France.
Insights
Thrombophilia testing in children is often debated. This study found that testing should be targeted, confirmed with follow-up, and accompanied by counseling for clear clinical relevance.
Area of Science:
- Pediatric Hematology
- Clinical Genetics
- Thrombosis and Hemostasis
Background:
- The clinical utility of thrombophilia testing in pediatric populations is uncertain due to a lack of age-specific guidelines.
- This study evaluated the real-world use and impact of thrombophilia testing in a French pediatric center.
Purpose of the Study:
- To assess the indications, results, and clinical significance of hereditary thrombophilia testing in children.
- To provide insights into the appropriate application of thrombophilia diagnostics in pediatric care.
Main Methods:
- A retrospective single-center study analyzed data from children under 18 who underwent hereditary thrombophilia testing in 2019.
- Clinical indications, test outcomes, thrombotic events, and management changes were examined.
Main Results:
- Of 129 pediatric patients, hematologic malignancy and suspected thrombotic events were the most common indications for testing.
- Hereditary thrombophilia was confirmed in only 10 patients (7.8%), with Factor V Leiden and prothrombin G20210A mutations being most frequent.
- Testing led to a change in clinical management in 3.9% of cases, and preventive counseling was inconsistently documented.
Conclusions:
- Thrombophilia testing in children requires careful targeting based on clinical relevance and established guidelines.
- Testing should be deferred during acute illness, confirmed with repeat testing for lifelong diagnoses, and followed by consistent preventive counseling.
- Standardized advice for identified thrombophilias is crucial for effective pediatric management.
Background:
The clinical value of thrombophilia testing in pediatric patients remains debated, especially in the absence of clear, age-specific guidelines. We aimed to assess the real-life indications, results, and clinical impact of thrombophilia testing in a French tertiary pediatric center.
Methods:
We conducted a retrospective, single-center study of all children (<18 years) who underwent hereditary thrombophilia testing at Armand Trousseau Hospital (AP-HP.Sorbonne Université) during 2019. Clinical indications, test results, thrombotic events, and their consequences for clinical management were analyzed.
Results:
A total of 129 patients (median age 6.7 years; 39.5% female) were included. The five most frequent indications were hematologic malignancy (55.0%), suspected or confirmed thrombotic events (18.6%), pre-kidney transplant evaluation (6.2%), family history of thrombophilia or thrombosis (6.2%), and preoperative assessment (3.9%). At least one abnormality was identified in 29.5% of patients, but only 10 had confirmed hereditary thrombophilia: protein S deficiency (n = 1), factor V Leiden mutation (homozygous n = 2; heterozygous n = 4), and heterozygous prothrombin G20210A mutation (n = 3). Most natural anticoagulant deficiencies were observed in children with leukemia and were not retested, thus remaining unconfirmed. Eleven patients (8.5%) experienced a venous thromboembolism (VTE); ten had at least one transient risk factor. Thrombophilia testing led to a change in clinical management in five patients (3.9%). Among patients with confirmed thrombophilia, preventive counseling was inconsistently documented.
Conclusion:
Thrombophilia testing in children should be carefully targeted, guided by established recommendations, and reserved for situations with clear clinical relevance. Testing should be deferred during acute illness, repeated to confirm lifelong diagnoses, and, if confirmed, accompanied by appropriate preventive counseling. Efforts should also focus on providing standardized, practical advice when a thrombophilia is identified.
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