Family history is a poor screen for prothrombotic genes in children with stroke

Sheila C. Johal, Bhuwan P. Garg, Mark E. Heiny, Linda Williams, Chandan Saha, Larry Walsh, Meredith Golomb

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)68-71
Number of pages4
JournalJournal of Pediatrics
Volume148
Issue number1
DOIs
StatePublished - Jan 2006

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Stroke
Mutation
Genes
Prothrombin
Thrombosis
Spontaneous Abortion
Venous Thrombosis
factor V Leiden
Parents
Myocardial Infarction
Pediatrics

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Family history is a poor screen for prothrombotic genes in children with stroke. / Johal, Sheila C.; Garg, Bhuwan P.; Heiny, Mark E.; Williams, Linda; Saha, Chandan; Walsh, Larry; Golomb, Meredith.

In: Journal of Pediatrics, Vol. 148, No. 1, 01.2006, p. 68-71.

Research output: Contribution to journalArticle

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abstract = "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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AU - Walsh, Larry

AU - Golomb, Meredith

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N2 - 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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