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Congenital prothrombotic disorders in children with peripheral venous and arterial thromboses
Manuela Albisetti1, Alexander Moeller, Katharina Waldvogel
1Division of Hematology, University Children's Hospital, Zurich, Switzerland. manuela.albisetti@kispi.unizh.ch
Insights
Congenital prothrombotic disorders are uncommon in children experiencing venous and arterial thromboses. Routine screening for these conditions is not recommended due to their low prevalence compared to acquired risk factors.
Area of Science:
- Pediatric Hematology
- Thrombosis Research
- Genetics
Background:
- Peripheral venous and arterial thromboses in children are serious conditions.
- Identifying underlying causes, including congenital prothrombotic disorders, is crucial for management.
- Acquired risk factors like catheter use and underlying diseases are common in pediatric thrombosis.
Purpose of the Study:
- To determine the prevalence of congenital prothrombotic disorders in pediatric patients with peripheral venous and arterial thromboses.
- To compare the frequency of congenital versus acquired risk factors in this patient group.
Main Methods:
- Investigated deficiencies in antithrombin (AT), proteins C (PC), and S (PS).
- Assessed for factor V (FV) G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T mutations.
- Evaluated increased lipoprotein (a) levels and documented acquired risk factors.
Main Results:
- No patients had AT, PC, or PS deficiencies.
- Mutations like FV G1691A, prothrombin G20210A, and MTHFR C677T were found in a small percentage of patients.
- Acquired factors, primarily catheter use (79%) and underlying diseases (96%), were highly prevalent.
Conclusions:
- Congenital prothrombotic disorders are rare in children with peripheral thromboses.
- The findings do not support universal screening for congenital prothrombotic disorders in these pediatric patients.
- Acquired risk factors play a more significant role in pediatric thrombosis.
Aims:
To evaluate the prevalence of congenital prothrombotic disorders in children with peripheral venous and arterial thromboses.
Methods:
Deficiencies in antithrombin (AT), proteins C (PC) and S (PS), and increased lipoprotein (a), and the presence of factor V (FV) G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) mutations were investigated.
Results:
Forty-eight patients (mean age, 3.4 years) were investigated. Of these patients, 23 had venous thrombosis, 22 had arterial thrombosis, and 3 had both. No patients had AT, PC or PS deficiency. FV G1691A mutation was present in 2 (7.6%) and 3 (12%) patients with venous and arterial thromboses, respectively. The prothrombin G20210A mutation was present in 1 (4%) patient with arterial thrombosis. Homozygous MTHFR C677T mutation was detected in 4 (18%) and 2 (9%) patients with venous and arterial thromboses, respectively. Increased lipoprotein (a) was present in 2 (10%) and 1 (4.5%) patients with venous and arterial thromboses, respectively. Regarding acquired risk factors, 79% of all thrombotic events were related to catheter usage. An underlying disease was present in 96% of the patients.
Conclusions:
Compared to acquired risk factors, congenital prothrombotic disorders are rarely present in children with peripheral venous and arterial thromboses. These results do not support general screening of children with venous and arterial thromboses for congenital prothrombotic disorders.
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