title: [Hyperhomocysteinemia complicated by myocardial infarction and portal vein thrombosis--case report].
abstract: Hyperhomocysteinemia (HHcy) can be associated with deficiency of group B vitamins and folic acid. HHcy might also results from renal insufficiency, diabetes, hypothyreosis or malignant diseases. In same cases HHcy is connected with mutations of genes involved in its metabolism. HHcy causes the increased risk of arterial and vein thrombosis. In this paper we show case report of woman with HHcy, who developed several complications, probably because of HHcy. This patient in the age of 38 and 44 years developed twice myocardial infarction, whereas in the age of 48 she suffered from portal vein thrombosis. According to documentation, the level of cholesterol has never been elevated, however HHcy was observed. During diagnostic process, the primary and secondary causes of HHcy were assessed. Mutations of genes involved in Hcy metabolism were also assessed. We did not find any mutation in protein products of methylenotetrahydrofolate reductase (MTHFR) or cystationine beta-synthase (CBS). The patient was treated with the use of folic acid, vitamin B12 and B6 supplementation, and normalization of Hcy level was received. This case report underline, how important role in the case of HHcy play vitamin supplementation. The early treatment of HHcy might limit thromboembolic complication.
authors.affiliation: Klinika Chorób Wewnetrznych, Endokrynologii i Zaburzeń Hemostazy, Akademia Medyczna w Gdańsku. ddw@amg.gda.pl
authors.forename: Dorota
authors.initials: D
authors.lastname: Dworakowska
authors.forename: Ewa
authors.initials: E
authors.lastname: Kazimierska
authors.forename: Jolanta
authors.initials: J
authors.lastname: Weyer-Hepka
authors.forename: Rafał
authors.initials: R
authors.lastname: Dworakowski
authors.forename: Joanna
authors.initials: J
authors.lastname: Jakóbiewicz-Banecka
authors.forename: Wojciech
authors.initials: W
authors.lastname: Suwała
authors.forename: Eugenia
authors.initials: E
authors.lastname: Czestochowska
mesh_terms: D005260:Female; D005492:Folic Acid / Q000627:therapeutic use; D006801:Humans; D020138:Hyperhomocysteinemia / Q000097:blood / Q000150:complications* / Q000188:drug therapy; D008875:Middle Aged; D009203:Myocardial Infarction / Q000209:etiology*; D011169:Portal Vein; D013927:Thrombosis / Q000209:etiology*; D016896:Treatment Outcome; D014805:Vitamin B 12 / Q000627:therapeutic use
chemical_list: D005492:Folic Acid; D014805:Vitamin B 12