20.500.12556/DiRROS-29843 Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan case series and systematic literature review 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 clinical characteristics of three Slovenian patients (an 8-year-old female, an 18-year-old man, and a 57-year-old female) and one Pakistani patient (a 59-year-old male) with LPL deficiency. We performed next-generation sequencing (NGS) targeting all coding exons and intron-exon boundaries of the LPL gene, and Sanger sequencing for variant confirmation. In addition, we performed a systematic literature review of all cases with three identified variants and described their clinical characteristics. Results: Two Slovenian patients with a heterozygous pathogenic variant NM_000237.3:c.984G>T (p.Met328Ile) were diagnosed within the first three years of life and had triglyceride (TG) values of 16 and 20 mmol/L. An asymptomatic Pakistani patient with TG values of 36.8 mmol/L until the age of 44 years, was identified as heterozygous for a pathogenic variant NM_000237.3:c.724G>A (p.Asp242Asn). His TG levels dropped to 12.7 mmol/L on dietary modifications and by using fibrates. A Slovenian patient who first suffered from pancreatitis at the age of 18 years with a TG value of 34 mmol/L was found to be homozygous for NM_000237.3:c.337T>C (p.Trp113Arg). Conclusions: Patients with LPL deficiency had high TG levels at diagnosis. Homozygous patients had worse outcomes. Good diet and medication compliance can reduce severity. LPL case series hypertriglyceridemia lipoprotein lipase lipoprotein lipase deficiency pancreatitis serija primerov hipertrigliceridemijo lipoproteinska lipaza pomanjkanje lipoproteinske lipaze pankreatitis true false true Angleški jezik Slovenski jezik Neznano 2026-06-08 12:18:27 2026-06-08 12:18:28 2026-06-09 03:49:21 0000-00-00 00:00:00 2024 0 0 Nasl. z nasl. zaslona; Opis vira z dne 19. 7. 2024; str. 1-8 no. [article no.] 1387419 Vol. 15 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.4 1664-2392 10.3389/fendo.2024.1387419 202344195 RAZ_Ain_Quratul_2024.pdf RAZ_Ain_Quratul_2024.pdf 1 FFA2B3C03CA40531ECF9EEE4CE951F86 f99471fa4585d32d9d2255daea2ed1488b8c68391ea2385a0026ec7aaeeeb0dd 86a252c0-6323-11f1-9215-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=44891 https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1387419/full 1 662152f7-6323-11f1-9215-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=44890 Univerzitetni klinični center Ljubljana 0 0 0