Coexistence of homozygous factor V Leiden mutation and antiphospholipid antibodies in two patients presented with Budd-Chiari syndrome

• Published in: Haematologia Vol. 32; no. 1; p. 73
• Main Authors: Diz-Kucukkaya, Reyhan, Demir, Kadir, Yenerel, Mustafa N, Nalcaci, Meliha, Kaymakoglu, Sabahattin, Inanc, Murat
• Format: Journal Article
• Language: English
• Published: Netherlands 2002
• Subjects: Abortion, Habitual - etiology; Adult; Antibodies, Antiphospholipid; Antiphospholipid Syndrome - etiology; Budd-Chiari Syndrome - etiology; Budd-Chiari Syndrome - genetics; Budd-Chiari Syndrome - immunology; Factor V; Family Health; Female; Homozygote; Humans; Middle Aged; Portal Vein; Pregnancy; Splenic Vein; Thrombosis - etiology
• ISSN: 0017-6559
• DOI: 10.1163/156855902760262790

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.