Family history is a poor screen for prothrombotic genes in children with stroke.
OBJECTIVE
To evaluate family history of early pathological thrombosis as a screen for genetic prothrombotic risk factors in children with stroke.


METHODS
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%.


CONCLUSIONS
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.
Johal
Sheila C
SC
Department of Medical Genetics, Division of Biostatistics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Garg
Bhuwan P
BP
Heiny
Mark E
ME
Williams
Linda S
LS
Saha
Chandan
C
Walsh
Laurence E
LE
Golomb
Meredith R
MR
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011237:Predictive Value of Tests; D011516:Prothrombin / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D020521:Stroke / Q000209:etiology* / Q000517:prevention & control; D013927:Thrombosis / Q000150:complications / Q000235:genetics* / Q000517:prevention & control
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin