title: Hereditary hemorrhagic telangiectasia, factor V Leiden and antiphospholipid syndrome: a case report.
abstract: We report on a 57-year-old woman with three episodes of ischemic strokes and hereditary hemorrhagic telangiectasia (HHT). Tests for inherited and acquired thrombophilia showed elevated anticardiolipin immunoglobulin (Ig)M antibodies (on three separate occasions), anti-prothrombin IgG antibodies, and the heterozygous form of factor V Leiden. This is the first case of HHT, a primary antiphospholipid syndrome, combined with factor V Leiden. No detectable arteriovenous malformation was found and ischemic episodes, documented by computer tomography, were related to the presence of antiphospholipid antibodies and possibly the carriership of factor V Leiden mutation. Since aspirin provoked severe nasal hemorrhages, treatment with ticlopidine was initiated after the third stroke. Over an 18-month follow-up, ischemic episodes were absent and we regarded oral anticoagulation as unjustifiable.
authors: Department of Medicine, Jagiellonian University School of Medicine, Cracow, Poland.
authors: A
authors: A
authors: Undas
authors: S
authors: S
authors: Bazan-Socha
authors: J
authors: J
authors: Swadzba
authors: J
authors: J
authors: Musial
mesh_terms: D017153:Antibodies, Anticardiolipin / Q000097:blood; D016736:Antiphospholipid Syndrome / Q000150:complications* / Q000276:immunology; D001323:Autoantibodies / Q000097:blood; D005165:Factor V; D005260:Female; D006801:Humans; D007511:Ischemia / Q000209:etiology; D008875:Middle Aged; D010375:Pedigree; D010975:Platelet Aggregation Inhibitors / Q000008:administration & dosage; D011516:Prothrombin / Q000276:immunology; D020521:Stroke / Q000209:etiology; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications*; D019851:Thrombophilia / Q000150:complications* / Q000235:genetics; D013988:Ticlopidine / Q000008:administration & dosage; D016896:Treatment Outcome
chemical_list: D017153:Antibodies, Anticardiolipin; D001323:Autoantibodies; D010975:Platelet Aggregation Inhibitors; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D013988:Ticlopidine