Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan : case series and systematic literature review

Ain, Quratul (avtor), Šikonja, Jaka (avtor), Trebušak Podkrajšek, Katarina (avtor), Battelino, Tadej (avtor), Fras, Zlatko (avtor), Grošelj, Urh (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: LPL, case series, hypertriglyceridemia, lipoprotein lipase, lipoprotein lipase deficiency, pancreatitis
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2024
• Št. strani: 8 str.
• Številčenje: Vol. 15, art. 1387419
• PID: 20.500.12556/RUL-166839
• UDK: 616.4
• ISSN pri članku: 1664-2392
• DOI: 10.3389/fendo.2024.1387419
• COBISS.SI-ID: 202344195
• Datum objave v RUL: 27.01.2025

Gradivo je del revije

• Naslov: Frontiers in endocrinology
• Založnik: Frontiers Research Foundation
• ISSN: 1664-2392
• COBISS.SI-ID: 3340154

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: serija primerov, hipertrigliceridemija, lipoproteinska lipaza, pomanjkanje lipoproteinske lipaze, pankreatitis