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Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan [Elektronski vir] : case series and systematic literature reviewAin, Quratul ...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.Vir: Frontiers in endocrinology [Elektronski vir]. - ISSN 1664-2392 (Vol. 15, no. [article no.] 1387419, 2024, str. 1-8)Vrsta gradiva - e-članekLeto - 2024Jezik - angleškiCOBISS.SI-ID - 202344195
Avtor
Ain, Quratul |
Cevc, Matija |
Marusic, Tatiana |
Šikonja, Jaka |
Sadiq, Fouzia |
Šuštar, Urša, 1990- |
Mlinarič, Matej, medicina |
Kovač, Jernej, medicina, 1983- |
Batool, Hijab |
Iqbal Khan, Mohammad |
Trebušak Podkrajšek, Katarina |
Jenko Bizjan, Barbara, 1988- |
Battelino, Tadej |
Fras, Zlatko |
Grošelj, Urh
Teme
LPL |
case series |
hypertriglyceridemia |
lipoprotein lipase |
lipoprotein lipase deficiency |
pancreatitis |
serija primerov |
hipertrigliceridemijo |
lipoproteinska lipaza |
pomanjkanje lipoproteinske lipaze |
pankreatitis
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Ain, Quratul | ![]() |
Cevc, Matija | 08799 |
Marusic, Tatiana | ![]() |
Šikonja, Jaka | ![]() |
Sadiq, Fouzia | ![]() |
Šuštar, Urša, 1990- | 50622 |
Mlinarič, Matej, medicina | 54252 |
Kovač, Jernej, medicina, 1983- | 32181 |
Batool, Hijab | ![]() |
Iqbal Khan, Mohammad | ![]() |
Trebušak Podkrajšek, Katarina | 20253 |
Jenko Bizjan, Barbara, 1988- | 35356 |
Battelino, Tadej | 13023 |
Fras, Zlatko | 11685 |
Grošelj, Urh | 33868 |
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