Related Experiment Videos
Thromboembolism in newborns, infants and children
U Nowak-Göttl1, A Kosch, N Schlegel
1Department of Paediatric Haematology/Oncology, University of Münster, Germany. leagottl@uni-muenster.de
Insights
Pediatric thrombosis risk factors and diagnostic methods are discussed. Screening for genetic mutations and deficiencies is crucial for managing childhood thromboembolism, though treatment guidelines are limited.
Area of Science:
- Pediatric Hematology
- Thromboembolism Research
- Genetics in Thrombosis
Background:
- Acquired and inherited prothrombotic risk factors are significant in pediatric thrombosis.
- Childhood thromboembolism diagnosis relies on imaging techniques.
Purpose of the Study:
- To outline diagnostic approaches for pediatric thromboembolism.
- To highlight essential screening tests for prothrombotic risk factors in children.
- To address challenges in pediatric thromboembolism treatment protocols.
Main Methods:
- Utilizing imaging modalities like duplex sonography, venography, CT, and MRI for diagnosis.
- Recommending venography for confirming upper venous system occlusion.
- Screening for specific genetic mutations (Factor V G1691A, Prothrombin G20210A, MTHFR C677T) and deficiencies (Protein C, Protein S, Antithrombin).
- Measuring lipoprotein (a) and fasting homocysteine levels.
- Interpreting data using age-dependent ranges and considering ethnic backgrounds.
Main Results:
- Venography is the gold standard for upper venous system occlusion diagnosis.
- Post-thrombosis screening identifies key genetic and deficiency-related risk factors.
- Interpretation requires age-specific reference ranges and ethnic considerations.
Conclusions:
- Effective management of pediatric thromboembolism requires comprehensive genetic and deficiency screening.
- Lack of pediatric-specific clinical trials complicates treatment protocol development.
- Individualized treatment plans, adapted from adult guidelines and small-scale studies, are currently necessary.
Abstract:
As in adults, acquired and inherited prothrombotic risk factors increase the risk of thrombosis in neonates, infants and children. Duplex sonography, venography, computed tomography and magnetic resonance imaging can be used to diagnose childhood thromboembolism, but venography is the recommended method to confirm vascular occlusion of the upper venous system. After suffering thrombosis, patients should be screened for factor V G1691A, prothrombin G20210A and MTHFR C677T genotypes, deficiencies of protein C, protein S, and antithrombin, elevation of lipoprotein (a) and fasting homocysteine concentrations (3 to 6 months after thrombotic onset: plasma-based assays). Data interpretation is based on age-dependent reference ranges and the identification of causative gene mutations/polymorphisms with respect to the individual ethnic background. Paediatric treatment protocols for acute thromboembolism, including thrombolytic and anticoagulant therapy, are hampered by the lack of appropriate clinical trials. Thus, recommendations from small-scale studies in paediatric patients and guidelines adapted from adult patient protocols may be helpful in the management of paediatric patients on an individual patient basis.