Balkan Journal of Medical Genetics (Mar 2023)

A novel variant in the LIPA gene associated with distinct phenotype

  • Sarajlija A.,
  • Armengol L.,
  • Maver A.,
  • Kitic I.,
  • Prokic D.,
  • Cehic M.,
  • Djuricic M.S.,
  • Peterlin B.

DOI
https://doi.org/10.2478/bjmg-2022-0010
Journal volume & issue
Vol. 25, no. 1
pp. 93 – 100

Abstract

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Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the LIPA gene. Spectrum of LAL-D ranges from early onset of hepatosplenomegaly and psychomotor regression (Wolman disease) to a more chronic course (cholesteryl ester storage disease - CESD). The diagnosis is based on lipid and biomarker profiles, specific liver histopathology, enzyme deficiency, and identification of causative genetic variants. Biomarker findings are a useful for diagnostics of LAL-D, including high plasma concentration of chitotriosidase as well as elevated oxysterols. Current treatment options include enzyme replacement therapy (sebelipase-alpha), statins, liver transplantation, and stem cell transplantation.

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