Paradoxical association between the 316 Trp to Ser beta 2-glycoprotein I (Beta2GPI) polymorphism and anti-Beta2GPI antibodies.
We report a woman with an obstetric history of a stillbirth at 28 weeks, associated with hypertension and severe intrauterine growth restriction and a miscarriage at 9 weeks. She was persistently positive for immunolgobulin G (IgG) anticardiolipin antibodies and IgG anti-Beta-2-glycoprotein I (anti-Beta2GPI) antibodies. She has delivered three healthy babies when managed antenatally with aspirin and low-molecular-weight heparin prophylaxis. Genotyping revealed that she was homozygous for the 316 Trp to Ser Beta2GPI polymorphism. Studies examining the binding of her plasma Beta2GPI to purified cardiolipin showed markedly reduced binding in comparison with Beta2GPI in pooled normal plasma.
Nash
Michael J
MJ
Haemostasis Research Unit, Department of Haematology, University College London, London, UK. michael.nash@ucl.ac.uk
Camilleri
Raymond S
RS
Liesner
Ri
R
Mackie
Ian J
IJ
Machin
Samuel J
SJ
Cohen
Hannah
H
D000328:Adult; D000483:Alleles; D001323:Autoantibodies / Q000097:blood*; D002308:Cardiolipins / Q000097:blood / Q000276:immunology; D005260:Female; D005313:Fetal Death / Q000235:genetics* / Q000276:immunology; D006023:Glycoproteins / Q000097:blood / Q000235:genetics* / Q000276:immunology; D006801:Humans; D011110:Polymorphism, Genetic; D011247:Pregnancy; D053482:beta 2-Glycoprotein I
D001323:Autoantibodies; D002308:Cardiolipins; D006023:Glycoproteins; D053482:beta 2-Glycoprotein I