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Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism
U Nowak-Göttl1, K Auberger, U Göbel
1Westfälische Wilhelms-Universität, Department of Paediatrics, Paediatric Haematology and Oncology, Münster, Germany.
Insights
Childhood thrombo-embolism often stems from inherited thrombophilia, particularly resistance to activated protein C. Laboratory evaluation for inherited coagulation disorders is crucial in affected children.
Area of Science:
- Pediatric Hematology
- Thrombosis Research
- Genetics of Coagulation Disorders
Background:
- Childhood thrombo-embolism is frequently linked to inherited thrombophilia or acquired risk factors.
- Key inherited thrombophilias include protein C pathway defects, protein C deficiency, and protein S deficiency.
- Resistance to activated protein C, often due to a factor V gene mutation, is a significant inherited cause.
Purpose of the Study:
- To highlight the importance of inherited thrombophilia in childhood thrombo-embolism.
- To emphasize the need for laboratory evaluation of inherited coagulation disorders in children with thrombo-embolism.
- To discuss the current limitations in treatment recommendations for pediatric thrombo-embolism.
Main Methods:
- Review of existing literature on childhood thrombo-embolism.
- Analysis of common inherited thrombophilias and their genetic basis.
- Discussion of risk factors contributing to thrombo-embolic events in children.
Main Results:
- Resistance to activated protein C is a prevalent inherited cause of thrombo-embolism in children.
- Acquired risk factors can mask underlying inherited thrombophilia in pediatric patients.
- Adequate laboratory assessment for inherited coagulation disorders is recommended for children experiencing thrombo-embolism.
Conclusions:
- Inherited thrombophilia, especially resistance to activated protein C, plays a critical role in childhood thrombo-embolism.
- Early and thorough laboratory evaluation for inherited coagulation disorders is essential in affected children.
- Current treatment guidelines for pediatric thrombo-embolism are largely based on adult data, necessitating further research.
Abstract:
Childhood thrombo-embolism is mostly the result of inherited thrombophilia or vascular insults combined with risk factors such as peripartal asphyxia, fetopathia diabetica, exsiccosis, septicaemia, central lines, congenital heart disease, cancer, trauma, surgery or elevated antiphospholipid antibodies. Inherited thrombophilia includes mainly defects of the protein C pathway, resistance to activated protein C, protein C or protein S deficiency. Resistance to activated protein C, in the majority of cases caused by the point mutation Arg 506 Gln of the factor V gene, has emerged as the most important hereditary cause of thrombo-embolism in adults and children. However, since an acquired risk of thrombo-embolic complications frequently masks the inherited deficiency in affected children, children with thrombo-embolism should have adequate laboratory evaluation for inherited coagulation disorders, especially the protein C pathway. Until more data on childhood thrombo-embolism are available, treatment recommendations will continue to be extrapolated from guidelines for adults.