title: Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.
abstract: Hypertriglyceridaemia is a common biochemical abnormality that can be due to primary causes or, more commonly, secondary causes. Moderate hypertriglyceridaemia is a risk factor for cardiovascular disease and can develop into severe hypertriglyceridaemia which is a risk factor for acute pancreatitis. Familial chylomicronaemia is a rare autosomal recessive disorder, usually diagnosed in childhood and is characterized by marked hypertriglyceridaemia and biochemical deficiency of lipoprotein lipase (LPL), apolipoprotein (apo) C-II, homozygous (or compound heterozygous) gene mutations in LPL or more rarely, APOC2. Recently, loss-of-function mutations in the APOA5 gene have been reported in patients with severe hypertriglyceridaemia in whom LPL or APOC2 mutations were not found. We describe the clinical features and genetic analysis of three patients with severe hypertriglyceridaemia including novel mutations LPL c.464T>C (p.Leu155Pro) and APOA5 c.823C>T (p.Gln275*).
authors.affiliation: Department of Clinical Biochemistry, Path West Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia School of Medicine & Pharmacology, University of Western Australia, Perth, Australia School of Pathology & Laboratory Medicine, University of Western Australia, Perth, Australia.
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Hooper
authors.affiliation: Griffith University School of Medicine and Griffith Health Institute, Gold Coast, Australia Department of Renal Medicine, Gold Coast University Hospital and Griffith University School of Medicine, Gold Coast, Australia.
authors.forename: Jagadeesh
authors.initials: J
authors.lastname: Kurtkoti
authors.affiliation: Griffith University School of Medicine and Griffith Health Institute, Gold Coast, Australia.
authors.forename: Ian
authors.initials: I
authors.lastname: Hamilton-Craig
authors.affiliation: Department of Clinical Biochemistry, Path West Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia School of Medicine & Pharmacology, University of Western Australia, Perth, Australia john.burnett@health.wa.gov.au.
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
mesh_terms: D000328:Adult; D000368:Aged; D000072040:Apolipoprotein A-V; D053304:Apolipoprotein C-II / Q000097:blood*; D001054:Apolipoproteins A / Q000097:blood / Q000235:genetics; D005260:Female; D006801:Humans; D015228:Hypertriglyceridemia / Q000097:blood / Q000235:genetics / Q000473:pathology; D008071:Lipoprotein Lipase / Q000097:blood / Q000235:genetics; D008297:Male; D009154:Mutation
chemical_list: C437704:APOA5 protein, human; D000072040:Apolipoprotein A-V; D053304:Apolipoprotein C-II; D001054:Apolipoproteins A; D008071:Lipoprotein Lipase
keywords: ApoA-V; apoC-II; hypertriglyceridaemia; lipoprotein lipase; primary chylomicronaemia