Download PDF
J Pediatr Genet 2024; 13(04): 326-329
DOI: 10.1055/s-0042-1757886
Case-Based Review

LPL Gene Mutation in Type 1 Familial Triglyceridemia Presenting as Recurrent Pancreatitis and Complicated by COVID19

Dhanasekhar Kesavelu
1   Department of Pediatric Gastroenterology, Apollo Children's Hospital, Chennai, Tamil Nadu, India
,
Soundaram Valliyappan
1   Department of Pediatric Gastroenterology, Apollo Children's Hospital, Chennai, Tamil Nadu, India
,
Sarah Nalliannan
1   Department of Pediatric Gastroenterology, Apollo Children's Hospital, Chennai, Tamil Nadu, India
,
Priyadarshini Pande
2   MedGenome Labs Ltd., Bangalore, Karnataka, India
,
Subathra Mahalingam
2   MedGenome Labs Ltd., Bangalore, Karnataka, India
› Author Affiliations
› Further Information
Also available at
    Permissions and Reprints

Abstract

A 7-year-old girl with recurrent episodes of pancreatitis with risk factor of poorly controlled hyperglyceridemia presented with an acute episode of pancreatitis. She was managed conservatively and underwent whole exome sequencing which showed a likely pathogenic LPL gene mutation. Incidentally, she was diagnosed with COVID-19 on screening, which we hypothesize to have triggered the recent episode. On further examination, she was found to have bilateral cataracts. Her hypercholesterolemia was effectively managed with dietary therapy, high dose omega 3, and gemfibrozil. Our case report sensitizes the clinician to use a modern diagnostic tool such as whole exome sequencing in children with recurrent pancreatitis where hypertriglyceridemia is a known risk factor. This child is the first case of LPL mutation reported in India.

Keywords

LPL gene - recurrent pancreatitis - COVID-19 - hypertriglyceridemia - bilateral cataracts


Publication History

Received: 07 November 2021

Accepted: 06 September 2022

Article published online:
01 November 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Valaiyapathi B, Sunil B, Ashraf AP. Approach to hypertriglyceridemia in the paediatric population. Pediatr Rev 2017; 38 (09) 424-434
    CrossrefPubMedSearch in Google Scholar
  • 2 Asakura L, Lottenberg AM, Neves MQ. et al. Dietary medium-chain triacylglycerol prevents the postprandial rise of plasma triacylglycerols but induces hypercholesterolemia in primary hypertriglyceridemic subjects. Am J Clin Nutr 2000; 71 (03) 701-705
    CrossrefPubMedSearch in Google Scholar
  • 3 Berglund L, Brunzell JD, Goldberg AC. et al; Endocrine society. Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2012; 97 (09) 2969-2989
    CrossrefPubMedSearch in Google Scholar
  • 4 De La Torre A, Hamilton L, Wilson DP. A clinical approach to aggressive treatment of children with severe hypertriglyceridemia (Updated Feb 09, 2020). In: Feingold KR, Anawalt B, Boyce A. et al, eds. Comprehensive Free Online Endocrinology Book. South Dartmouth, MA: Endotext.org; 2000
    Search in Google Scholar
  • 5 Shah MH, Roshan R, Desai R, Kadam SS. Neonatal hyperlipidemia with pancreatitis: novel gene mutation of lipoprotein lipase. J Postgrad Med 2018; 64 (04) 247-249
    CrossrefPubMedSearch in Google Scholar
  • 6 Hanan SALA, AlAlwan I. Two siblings with familial chylomicronemia syndrome: disease course and effectiveness of early treatment. Case Rep Med 2010;(1687-9627):807434
    PubMed
  • 7 Freed D. et al. The Sentieon genomics tools—a fast and accurate solution to variant calling from next-generation sequence data. BioRxiv:115717 2017
    PubMed
  • 8 Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010; 26 (05) 589-595
    CrossrefPubMedSearch in Google Scholar
  • 9 McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F. Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor. Bioinformatics 2010; 26 (16) 2069-2070
    CrossrefPubMedSearch in Google Scholar
  • 10 Zerbino DR, Achuthan P, Akanni W. et al. Ensembl 2018. Nucleic Acids Res 2018; 46 (D1): D754-D761
    CrossrefPubMedSearch in Google Scholar
  • 11 Landrum MJ, Lee JM, Benson M. et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 2016; 44 (D1): D862-D868
    CrossrefPubMedSearch in Google Scholar
  • 12 McKusick VA. Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders. 12th ed. Baltimore: Johns Hopkins University Press; 1998
    Search in Google Scholar
  • 13 Welter D, MacArthur J, Morales J. et al. The NHGRI GWAS catalog, a curated resource of SNP-trait associations. Nucleic Acids Res 2014; 42 (Database issue): D1001-D1006
    CrossrefPubMedSearch in Google Scholar
  • 14 Stenson PD, Mort M, Ball EV. et al. The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 2017; 136 (06) 665-677
    CrossrefPubMedSearch in Google Scholar
  • 15 Mottaz A, David FP, Veuthey AL, Yip YL. Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar. Bioinformatics 2010; 26 (06) 851-852
    CrossrefPubMedSearch in Google Scholar
  • 16 Wang Y, Sternfeld L, Yang F. et al. Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells. Gut 2009; 58 (03) 422-430
    CrossrefPubMedSearch in Google Scholar
  • 17 Petersen OH, Gerasimenko JV, Gerasimenko OV, Gryshchenko O, Peng S. The roles of calcium and ATP in the physiology and pathology of the exocrine pancreas. Physiol Rev 2021; 101 (04) 1691-1744
    CrossrefPubMedSearch in Google Scholar