Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia

Amanda Hooper, Jagadeesh Kurtkoti, Ian Hamilton-Craig, John Burnett

    Research output: Contribution to journalArticle

    9 Citations (Scopus)

    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*).

    Original languageEnglish
    Pages (from-to)485-489
    Number of pages5
    JournalAnnals of Clinical Biochemistry
    Volume51
    Issue number4
    DOIs
    Publication statusPublished - Jul 2014

    Keywords

    • ApoA-V
    • apoC-II
    • hypertriglyceridaemia
    • lipoprotein lipase
    • primary chylomicronaemia

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