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Published on: August 15, 2019
Family history is a poor screen for prothrombotic genes in children with stroke
Sheila C Johal1, Bhuwan P Garg, Mark E Heiny
1Department of Medical Genetics, Division of Biostatistics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Insights
Family history of early thrombosis does not reliably identify genetic risk factors like Factor V Leiden (FVL) or Prothrombin G20210A (PTG) in children with stroke. All pediatric stroke patients require prothrombotic testing.
Area of Science:
- Pediatric Neurology
- Hematology
- Genetics
Background:
- Genetic prothrombotic risk factors contribute to pediatric stroke.
- Family history of early thrombosis is a potential screening tool.
Purpose of the Study:
- To assess the utility of family history of early pathological thrombosis in screening for genetic prothrombotic risk factors (Factor V Leiden mutation [FVL] and Prothrombin G20210A mutation [PTG]) in children diagnosed with stroke.
Main Methods:
- Retrospective review of 68 children with arterial ischemic stroke (AIS) or sinovenous thrombosis (SVT).
- Defined family history as parental/grandparental history of thrombosis or miscarriage before age 50.
- Evaluated association between family history and FVL/PTG presence.
Main Results:
- 19.1% of children had a positive family history.
- FVL was present in 13.2%, and PTG in 1.5%.
- Family history showed no significant association with FVL or combined FVL/PTG (p > .36).
Conclusions:
- Family history of early thrombosis is not a reliable indicator for FVL or PTG in pediatric stroke.
- Recommend comprehensive prothrombotic workup for all children with stroke, irrespective of family history.
Objective:
To evaluate family history of early pathological thrombosis as a screen for genetic prothrombotic risk factors in children with stroke.
Study Design:
A 5-year retrospective review of standardized pediatric stroke clinic evaluations of children with arterial ischemic stroke (AIS) or sinovenous thrombosis (SVT). A family history of early pathological thrombosis was defined as stroke, heart attack, or deep venous thrombosis before 50 years of age or multiple miscarriages in the parents or grandparents of the patient. We evaluated the association between family history and the presence of the Factor V Leiden mutation (FVL) and/or Prothrombin G20210A mutation (PTG) in these children.
Results:
The study included 68 children. Thirteen (19.1%) had a positive family history of early pathological thrombosis, nine (13.2%) were heterozygous for FVL, and one (1.5%) was heterozygous for PTG. Family history was not associated with the presence of FVL (p = .36) or FVL combined with PTG (p = .40). For FVL, family history had a positive predictive value of 23.1% and a negative predictive value of 89.1%.
Conclusion:
A family history of early thrombosis is not associated with the presence of FVL or PTG in children with stroke. We recommend that all children with stroke receive a prothrombotic workup regardless of family history.
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