Lysosomal acid lipase activity is reduced both in cryptogenic cirrhosis and in cirrhosis of known etiology

Umberto Vespasiani-Gentilucci, Paolo Gallo, Fiorella Piemonte, Elisabetta Riva, Aldostefano Porcari, Ferruccio Vorini, Giulia Tozzi, Livia Piccioni, Giovanni Galati, Antonio De Vincentis, Simone Carotti, Sergio Morini, Jessica D'Amico, Silvia Angeletti, Claudio Pedone, Antonio Picardi

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Lysosomal acid lipase deficiency (LAL-d) is a rare autosomal recessive disease in which LAL activity is almost absent, with consequent massive microvesicular steatosis evolving to cirrhosis and liver failure. We aimed to determine LAL-activity, and to investigate the most common single nucleotide polymorphism (SNP) affecting the LIPA gene and responsible for 50-70% of LAL-d cases (rs116928232 c.894G>A), in patients with cryptogenic cirrhosis. Sixty-three patients with cryptogenic cirrhosis, 88 cirrhotics of known etiology, and 97 healthy subjects were enrolled. LAL-activity was determined in dried-blood-spot (DBS). The c.894G>A mutation was analyzed by pyrosequencing method in SNP mode. LAL-activity was severely reduced in patients with cryptogenic cirrhosis with respect to healthy subjects [0.62 (0.44-0.86) Vs 0.96 (0.75-1.25) nmol/spot/h, pA SNP except for one patient with HCV cirrhosis. By multivariate analysis, LAL-activity was not associated with age, sex, liver enzymes, liver function or lipid parameters, while it was independently associated with white blood cell (β = 0.2; p

Original languageEnglish
Article numbere0156113
JournalPLoS One
Issue number5
Publication statusPublished - May 1 2016

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)


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