title: [Sudden unexpected cardiac death in an 18-year-old female with familial hypercholesterolaemia].
abstract: Familial hypercholesterolaemia (FH) is a well-defined but underdiagnosed dyslipidaemia occurring in 1:500 persons. We report a case where an 18-year-old woman with an untreated FH dies a sudden cardiac death due to acute myocardial infarction. In patients with FH atherosclerotic manifestations are common at a young age and FH should always be suspected in patients with P-low-density lipoprotein cholesterol level above 5 mmol/l (4 mmol/l for persons < 16 years of age). Patients with FH should be referred to specialized units so that family members with FH systematically are identified.
authors: Danmarks Grund- forskningsfonds Center for Hjertearytmi, Københavns Universitet, Denmark. bjarkerisgaard@gmail.com
authors: Bjarke
authors: B
authors: Risgaard
authors: Reza
authors: R
authors: Jabbari
authors: Henning
authors: H
authors: Bundgaard
authors: Steen Holger
authors: SH
authors: Hansen
authors: Stig
authors: S
authors: Haunsø
authors: Bo Gregers
authors: BG
authors: Winkel
authors: Jacob
authors: J
authors: Tfelt-Hansen
mesh_terms: D000293:Adolescent; D050197:Atherosclerosis / Q000209:etiology / Q000473:pathology; D008078:Cholesterol, LDL / Q000097:blood; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications*; D009203:Myocardial Infarction / Q000209:etiology
chemical_list: D008078:Cholesterol, LDL