title: Atherothrombosis in 2 vascular territories in a young woman: importance of thrombophilia testing.
abstract: The diagnosis and management of complex and multiple inherited thrombophilias is still a challenge for the clinicians involved in this field, clinical events being the result of the interaction between genes, environmental or other acquired factors, and age. Moreover, various clinical manifestations as regards severity or type of event (venous or arterial thrombotic event, obstetrical complications) are cited in these patients. We present the case of a 20-year-old woman, with a 2-month history of third-generation contraceptive use and with recently diagnosed hypercholesterolemia, who presented ischemic events in 2 arterial territories: acute left lower limb ischemia and silent myocardial infarction. Screening tests for thrombophilia, including genetic testing, showed moderate hyperhomocysteinemia and 2 inherited thrombophilic defects. Invasive investigation of the coronary arteries showed the presence of advanced atherosclerotic disease. Management of this complex thrombophilia includes lifetime oral anticoagulation as well as a homocysteine-lowering strategy comprising lifestyle modification and group B (folic acid, B(6), B(12)) vitamin supplementing.
authors.affiliation: Department of Cardiology, Institute of Emergency for Cardiovascular Diseases Prof Dr CC Iliescu, Bucharest, Romania. rjurcut@gmail.com
authors.forename: Ruxandra
authors.initials: R
authors.lastname: Jurcut
authors.forename: Anca
authors.initials: A
authors.lastname: Florian
authors.forename: Dan
authors.initials: D
authors.lastname: Deleanu
authors.forename: Ileana
authors.initials: I
authors.lastname: Arsenescu
authors.forename: Ciprian
authors.initials: C
authors.lastname: Jurcut
authors.forename: Daniel
authors.initials: D
authors.lastname: Coriu
authors.forename: Carmen
authors.initials: C
authors.lastname: Ginghina
mesh_terms: D000328:Adult; D000925:Anticoagulants / Q000008:administration & dosage*; D003276:Contraceptives, Oral / Q000008:administration & dosage; D003324:Coronary Artery Disease / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006801:Humans; D006937:Hypercholesterolemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D020138:Hyperhomocysteinemia / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000235:genetics; D007511:Ischemia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D035002:Lower Extremity / Q000098:blood supply; D009203:Myocardial Infarction / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000235:genetics; D019851:Thrombophilia / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D013927:Thrombosis / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D014803:Vitamin B Complex / Q000008:administration & dosage*
chemical_list: D000925:Anticoagulants; D003276:Contraceptives, Oral; D014803:Vitamin B Complex