Family history of venous thromboembolism and identifying factor V Leiden carriers during pregnancy.
OBJECTIVE
To estimate whether there is a correlation between family history of venous thromboembolism and factor V Leiden mutation carriage in gravid women without a personal history of venous thromboembolism.


METHODS
This is a secondary analysis of a prospective observational study of the frequency of pregnancy-related thromboembolic events among carriers of the factor V Leiden mutation. Family history of venous thromboembolism in either first- or second-degree relatives was self-reported. Sensitivity, specificity, and positive and negative predictive values of family history to predict factor V Leiden mutation carrier status were calculated.


RESULTS
Women without a personal venous thromboembolism history and with available DNA were included (n=5,168). One hundred forty women (2.7% [95% confidence interval (CI) 2.3-3.2%]) were factor V Leiden mutation-positive. Four hundred twelve women (8.0% [95% CI 7.3-8.7%]) reported a family history of venous thromboembolism. Women with a positive family history were twofold more likely to be factor V Leiden mutation carriers than those with a negative family history (23 of 412 [5.6%] compared with 117 of 4,756 [2.5%], P<.001). The sensitivity, specificity, and positive predictive value of a family history of a first- or second-degree relative for identifying factor V Leiden carriers were 16.4% (95% CI 10.7-23.6%), 92.3% (95% CI 91.5-93.0%), and 5.6% (95% CI 3.6-8.3%), respectively.


CONCLUSIONS
Although a family history of venous thromboembolism is associated with factor V Leiden mutation in thrombosis-free gravid women, the sensitivity and positive predictive values are too low to recommend screening women for the factor V Leiden mutation based solely on a family history.
Horton
Amanda L
AL
From the Departments of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina; University of Utah, Salt Lake City, Utah; University of Alabama at Birmingham, Birmingham, Alabama; University of Texas Southwestern Medical Center, Dallas, Texas; The Ohio State University, Columbus, Ohio; University of Tennessee, Memphis, Tennessee; University of Pittsburgh, Pittsburgh, Pennsylvania; Wayne State University, Detroit, Michigan; University of Cincinnati, Cincinnati, Ohio; University of Miami, Miami, Florida; University of Texas at San Antonio, San Antonio, Texas; Thomas Jefferson University, Philadelphia, Pennsylvania; and The George Washington University Biostatistics Center, Washington, DC; and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.
Momirova
Valerija
V
Dizon-Townson
Donna
D
Wenstrom
Katharine
K
Wendel
George
G
Samuels
Philip
P
Sibai
Baha
B
Spong
Catherine Y
CY
Cotroneo
Margaret
M
Sorokin
Yoram
Y
Miodovnik
Menachem
M
O'Sullivan
Mary J
MJ
Conway
Deborah
D
Wapner
Ronald J
RJ
D005165:Factor V / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008403:Mass Screening / Q000379:methods; D010375:Pedigree; D011237:Predictive Value of Tests; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000175:diagnosis* / Q000235:genetics; D011296:Prenatal Diagnosis / Q000379:methods*; D011446:Prospective Studies; D054556:Venous Thromboembolism / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V