Coexistence of homozygous factor V Leiden mutation and antiphospholipid antibodies in two patients presented with Budd-Chiari syndrome.
Two female patients are reported, who presented with Budd-Chiari syndrome (hepatic vein thrombosis), and were found to have both, antiphospholipid antibodies and homozygous factor V Leiden mutation. Both patients also had recurrent fetal losses, as well as splenic and portal vein thrombosis. The coexistence of homozygous factor V Leiden mutation and antiphospholipid antibodies in patients with Budd-Chiari syndrome is extremely rare. The interaction of antiphospholipid antibodies and factor V Leiden mutation in the pathogenesis of antiphospholipid syndrome and their contribution to Budd-Chiari syndrome are discussed.
Diz-Kucukkaya
Reyhan
R
Department of internal Medicine, Istanbul Medical Faculty, The University of Istanbul, Turkey. rkucukkaya@hotmail.com
Demir
Kadir
K
Yenerel
Mustafa N
MN
Nalcaci
Meliha
M
Kaymakoglu
Sabahattin
S
Inanc
Murat
M
D000026:Abortion, Habitual / Q000209:etiology; D000328:Adult; D017152:Antibodies, Antiphospholipid; D016736:Antiphospholipid Syndrome / Q000209:etiology; D006502:Budd-Chiari Syndrome / Q000209:etiology* / Q000235:genetics / Q000276:immunology; D005165:Factor V; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D011169:Portal Vein; D011247:Pregnancy; D013162:Splenic Vein; D013927:Thrombosis / Q000209:etiology
D017152:Antibodies, Antiphospholipid; C095381:factor V Leiden; D005165:Factor V