title: Familial antiphospholipid syndrome presenting as bivessel arterial occlusion in a 17-year-old girl.
abstract: This article presents a case of a 17-year-old girl with primary antiphospholipid syndrome developing subacute signs of hand and leg ischaemia caused by radiologically verified radial and popliteal artery occlusion. She is successfully treated with a thrombolytic agent (alteplase) and recovers completely. Her laboratory results came positive for all three subtypes of antiphospholipid antibodies. This kind of antiphospholipid syndrome presentation is a very rare entity in itself. Shortly afterwards her mother is diagnosed with primary antiphospholipid syndrome as well. A familial form of antiphospholipid syndrome is suspected. Combination of a familial antiphospholipid syndrome presenting as bivessel arterial thrombosis is a unique case, to the best of our knowledge, never described in the literature before.
authors.affiliation: Division of Paediatric Rheumatology and Immunology, Department of Paediatrics, University Hospital Center Zagreb, Kišpatićeva 12, 10000 Zagreb, Croatia. marija.jelusic.drazic@gmail.com
authors.forename: Marija
authors.initials: M
authors.lastname: Jelušić
authors.forename: Katarina
authors.initials: K
authors.lastname: Starčević
authors.forename: Mandica
authors.initials: M
authors.lastname: Vidović
authors.forename: Savko
authors.initials: S
authors.lastname: Dobrota
authors.forename: Kristina
authors.initials: K
authors.lastname: Potočki
authors.forename: Ljiljana
authors.initials: L
authors.lastname: Banfić
authors.forename: Branimir
authors.initials: B
authors.lastname: Anić
mesh_terms: D000284:Administration, Oral; D000293:Adolescent; D015901:Angiography, Digital Subtraction; D017152:Antibodies, Antiphospholipid / Q000097:blood; D000925:Anticoagulants / Q000008:administration & dosage; D016736:Antiphospholipid Syndrome / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D001157:Arterial Occlusive Diseases / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D015415:Biomarkers / Q000097:blood; D003251:Constriction, Pathologic; D005260:Female; D005343:Fibrinolytic Agents / Q000627:therapeutic use; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007511:Ischemia / Q000209:etiology; D010375:Pedigree; D011150:Popliteal Artery / Q000000981:diagnostic imaging; D017534:Radial Artery / Q000000981:diagnostic imaging; D015912:Thrombolytic Therapy; D010959:Tissue Plasminogen Activator / Q000627:therapeutic use; D016896:Treatment Outcome; D014859:Warfarin / Q000008:administration & dosage
chemical_list: D017152:Antibodies, Antiphospholipid; D000925:Anticoagulants; D015415:Biomarkers; D005343:Fibrinolytic Agents; D014859:Warfarin; D010959:Tissue Plasminogen Activator