title: Familial lupus anticoagulant: a case report and review of the literature.
abstract: The antiphospholipid antibody (APLA) syndrome is defined by the presence of a lupus anticoagulant or markedly elevated plasma levels of anticardiolipin antibodies (ACAs), associated with venous or arterial thromboembolic events, fetal loss or thrombocytopenia. Familial clustering of raised APLA levels has been described, but the reports are heterogeneous with regard to the characterization of the APLA syndrome, coexisting autoimmune diseases and clinical complications. We describe two siblings with a lupus anticoagulant, elevated ACA-immunoglobulin G levels and systemic lupus erythematosus or related autoimmune disorders. Both patients experienced venous thrombotic complications at an early age. We provide a review of the literature, giving special consideration to the familial occurrence of lupus anticoagulants complicated by venous thrombosis, and emphasize the importance of family screening.
authors.affiliation: Department of Internal Medicine I, University of Vienna, Austria.
authors.forename: M
authors.initials: M
authors.lastname: Hellan
authors.forename: E
authors.initials: E
authors.lastname: Kühnel
authors.forename: W
authors.initials: W
authors.lastname: Speiser
authors.forename: K
authors.initials: K
authors.lastname: Lechner
authors.forename: S
authors.initials: S
authors.lastname: Eichinger
mesh_terms: D000293:Adolescent; D000328:Adult; D016736:Antiphospholipid Syndrome / Q000235:genetics*; D001327:Autoimmune Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D016682:Lupus Coagulation Inhibitor / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D013924:Thrombophlebitis / Q000235:genetics*
chemical_list: D016682:Lupus Coagulation Inhibitor