Article
Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.
Frontiers in endocrinology - 1 Jan 2024
Ain Quratul, Cevc Matija, Marusic Tatiana, Sikonja Jaka, Sadiq Fouzia, Sustar Ursa, Mlinaric Matej, Kovac Jernej, Batool Hijab, Khan Mohammad Iqbal, Trebusak Podkrajsek Katarina, Bizjan Barbara Jenko, Battelino Tadej, Fras Zlatko, Ajmal Muhammad, Groselj Urh
Abstract excerpt
Introduction: Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents with severe symptoms including acute pancreatitis, xanthomas, and lipemia retinalis. Methods: We described the...
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