title: Factor V Leiden is not common in patients diagnosed with primary pulmonary hypertension.
abstract: Substantial evidence suggests that thrombosis contributes to the pathogenesis of primary pulmonary hypertension (PPH). An abnormal factor V (factor V Leiden) may contribute to thrombosis in the pulmonary microcirculation of PPH patients. A point mutation in which adenine is substituted for guanine at nucleotide 1691 (1691A) alters factor V so that it resists cleavage by activated protein C. Heterozygosity for the 1691A mutation is more common (2-8%) in Caucasian Europeans and Americans than in Africans (1%) and Asians (<1%). The aim of the study was to examine the prevalence of the mutation that codes for factor V Leiden in individuals with PPH. We identified 42 Caucasians diagnosed with PPH. We extracted deoxyribonucleic acid (DNA) from whole blood and assayed DNA samples for the point mutation (1691 A) that codes for factor V Leiden. One out of 42 (2.4%; 95% confidence interval=0.1-12.6) Caucasians diagnosed with PPH was heterozygous for the normal 1691G and mutant 1691A allele. All 10 individuals with familial PPH were homozygous for the normal 1691G allele. The prevalence of heterozygosity for the 1691A allele and the normal 1691G allele does not differ from that observed in reference (control) populations. The low prevalence of the 1691A mutation among individuals diagnosed with primary pulmonary hypertension provides evidence that factor V Leiden does not contribute to the pathogenesis of the disease in most patients.
authors.affiliation: Dept of Medicine, LDS Hospital, University of Utah School of Medicine, Salt Lake City 84143, USA.
authors.forename: C G
authors.initials: CG
authors.lastname: Elliott
authors.forename: M F
authors.initials: MF
authors.lastname: Leppert
authors.forename: G J
authors.initials: GJ
authors.lastname: Alexander
authors.forename: K
authors.initials: K
authors.lastname: Ward
authors.forename: L
authors.initials: L
authors.lastname: Nelson
authors.forename: G G
authors.initials: GG
authors.lastname: Pietra
mesh_terms: D000328:Adult; D005165:Factor V / Q000032:analysis* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D006976:Hypertension, Pulmonary / Q000097:blood / Q000150:complications / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D013927:Thrombosis / Q000150:complications; D044465:White People
chemical_list: C095381:factor V Leiden; D005165:Factor V