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

Authors: Diz-Kucukkaya, Reyhan; Demir, Kadir; Yenerel, Mustafan N.; Nalcaci, Meliha; Kaymakoglu, Sabahattin; Inanc, Murat

Source: Haematologia, Volume 32, Number 1, 2002 , pp. 73-77(5)

Publisher: VSP, an imprint of Brill

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Abstract:

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.

Keywords: antiphospholipid antibodies; budd-chiari syndrome; homozygous factor v leiden mutation; portal vein thrombosis; recurrent fetal loss; splenic vein thrombosis

Document Type: Case report

DOI: http://dx.doi.org/10.1163/156855902760262790

Publication date: 2002-03-01