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Published on: August 18, 2015
Thromboembolism in children
Ulrike Nowak-Göttl1, Andrea Kosch, Nicole Schlegel
1Department of Pediatric Hematology/Oncology, University of Münster, Germany. leagottl@uni-muenster.de
Insights
Pediatric thromboembolism risk rises with acquired and inherited prothrombotic factors. Screening for gene mutations and deficiencies aids diagnosis and management, adapting adult treatment protocols for children.
Area of Science:
- Pediatric Hematology
- Thrombosis and Hemostasis
- Genetics
Background:
- Acquired and inherited prothrombotic risk factors are significant contributors to pediatric thrombosis.
- Understanding these factors is crucial for effective diagnosis and management in children.
Purpose of the Study:
- To review current literature on prothrombotic risk factors, diagnostic imaging, and treatment for pediatric thromboembolism.
- To highlight key genetic mutations and deficiencies relevant to pediatric thrombophilia.
Main Methods:
- Literature review of pediatric reports and new data (January 2001-February 2002).
- Focus on imaging modalities for thromboembolism confirmation.
- Analysis of genetic screening protocols for common and rare thrombophilias.
Main Results:
- Common gene mutations (factor V G1691A, prothrombin G20210A, MTHFR C677T) and rare deficiencies (protein C, S, antithrombin, plasminogen) are key targets.
- Emerging genetic factors include lipoprotein(a), homocysteine, fibrinogen, and coagulation factors.
- Interpretation requires age-dependent ranges and ethnic considerations.
Conclusions:
- Screening pediatric patients with confirmed thromboembolism for genetic risk factors is recommended.
- Treatment protocols for pediatric acute thromboembolism are largely based on adult guidelines.
- Further research may refine pediatric-specific diagnostic and therapeutic approaches.
Abstract:
Acquired and inherited prothrombotic risk factors increase the risk of thrombosis in children. This review is based on "milestone" pediatric reports and new literature data (January 2001-February 2002) on the presence of acquired and inherited prothrombotic risk factors, imaging methods, and treatment modalities in pediatric thromboembolism. After confirming clinically suspected thromboembolism with suitable imaging methods, pediatric patients should be screened for common gene mutations (factor V G1691A, prothrombin G20210A and MTHFR C677T genotypes), rare genetic deficiencies (protein C, protein S, antithrombin, and plasminogen), and new candidates for genetic thrombophilia causing elevated levels of lipoprotein(a), and homocysteine, and probable genetic risk factors (elevations in fibrinogen, factor IX, and factor VIIIC, and decreases in factor XII). Data interpretation is based on age-dependent reference ranges or the identification of causative gene mutations/polymorphisms with respect to individual ethnic backgrounds. Pediatric treatment protocols for acute thromboembolism, including thrombolytic and anticoagulant therapy, are mainly adapted from adult patient protocols.
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