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Published on: September 9, 2012

Prothrombotic risk factors in children with spontaneous venous thrombosis and their asymptomatic parents: a family

A Kosch1, R Junker, K Kurnik

  • 1Department of Pediatrics, University of Münster, Münster, Germany.

Thrombosis Research
|September 7, 2000
PubMed

Insights

Pediatric spontaneous venous thromboembolism (SVT) is often caused by multiple clotting abnormalities. Combined prothrombotic risk factors, like the factor V G1691A mutation, are more prevalent in children with SVT than in their parents.

Area of Science:

  • Hematology
  • Pediatric Thrombosis
  • Genetics

Background:

  • Spontaneous vascular accidents in children are a significant concern.
  • Understanding the genetic and acquired risk factors for pediatric thrombosis is crucial.

Purpose of the Study:

  • To assess the impact of single and combined clotting abnormalities on spontaneous vascular accidents in pediatric patients.
  • To compare prothrombotic risk profiles between affected children and their first-degree relatives.
  • To investigate the clinical expression of mild thrombophilic polymorphisms when co-inherited with other risk factors.

Main Methods:

  • Investigated 48 pediatric patients (<18 years) with spontaneous venous thromboembolism (SVT).
  • Assessed prothrombotic risk factors including factor V (FV) G1691A mutation, prothrombin (PT) G20210A, methylenetetrahydrofolate reductase (MTHFR) T677T, plasminogen activator inhibitor (PAI)-1 promoter polymorphism, lipoprotein (Lp)(a), antithrombin, protein C, and protein S.
  • Compared the prevalence of these factors in patients versus their first-degree family members.

Main Results:

  • 39.6% of patients had one prothrombotic risk factor; 56.3% had at least two.
  • The factor V G1691A mutation was frequently involved in combined defects.
  • Combined prothrombotic risk factors were significantly more common in children than in their parents.

Conclusions:

  • Early-onset SVT in childhood is primarily attributed to the combination of at least two prothrombotic risk factors.
  • Genetic predisposition and inheritance patterns play a critical role in pediatric thrombosis.

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