title: No excess of factor V:Q506 genotype but high prevalence of anticardiolipin antibodies without antiendothelial cell antibodies in retinal vein occlusion in young patients.
abstract: Factor V:Q506 (factor V Leiden) is associated with venous thrombosis and has been reported to be a risk factor for retinal vein occlusion (RVO). Anticardiolipin antibodies (ACA), also associated with RVO, are a marker for the prothrombotic condition antiphospholipid syndrome, in which antiendothelial antibodies (AECA) are also frequently present. This study reviewed 45 younger patients <or=55 years old (21 with branch, 22 with central and 2 with hemispheric RVO) to examine: (1) the rôle of factor V:Q506 in the pathogenesis of RVO, and (2) the prevalence and titre of ACA and AECA in this group. No patient had the factor V:Q506 mutation indicating no increase in frequency above background. Our data suggest that primary screening for factor V:Q506 is not indicated for young patients with RVO who do not have historical evidence suggesting familial thrombophilia. Twenty-nine patients had low-titre ACA (>10 GPL units); in 6 of these, the titre was >20 GPL units (population reference range = 0-10 GPL units). No patient had antiendothelial cell reactivity. The low-titre ACA may therefore represent a non-specific response to vascular injury.
authors.affiliation: Department of Ophthalmology, University of Aberdeen and Aberdeen Royal Infirmary, Aberdeen, UK. angus.scott@pacific.net.sg
authors.forename: J A
authors.initials: JA
authors.lastname: Scott
authors.forename: J J
authors.initials: JJ
authors.lastname: Arnold
authors.forename: J M
authors.initials: JM
authors.lastname: Currie
authors.forename: C
authors.initials: C
authors.lastname: Broadfoot
authors.forename: M
authors.initials: M
authors.lastname: Davidson
authors.forename: K F
authors.initials: KF
authors.lastname: Kelly
authors.forename: A
authors.initials: A
authors.lastname: Graham
authors.forename: J N
authors.initials: JN
authors.lastname: Kirkpatrick
authors.forename: M
authors.initials: M
authors.lastname: Greaves
mesh_terms: D020016:Activated Protein C Resistance / Q000235:genetics; D000293:Adolescent; D000328:Adult; D017153:Antibodies, Anticardiolipin / Q000097:blood*; D016736:Antiphospholipid Syndrome / Q000276:immunology; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004730:Endothelium, Vascular / Q000276:immunology*; D004797:Enzyme-Linked Immunosorbent Assay; D005165:Factor V / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007074:Immunoglobulin G / Q000032:analysis; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D015995:Prevalence; D012170:Retinal Vein Occlusion / Q000235:genetics* / Q000276:immunology*; D012307:Risk Factors
chemical_list: D017153:Antibodies, Anticardiolipin; D007074:Immunoglobulin G; C095381:factor V Leiden; D005165:Factor V