AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement

for the AISF Rare Diseases Committee, Fabio Nascimbeni, Carlo Dionisi Vici, Umberto Vespasiani Gentilucci, Francesco Angelico, Valerio Nobili, Salvatore Petta, Luca Valenti

Research output: Contribution to journalReview articlepeer-review


Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins. The consequence is a progressive accumulation of substrates in these intracellular organelles, resulting in cellular and tissue damage. The overall incidence is about 1/8000 live births, but is likely underestimated. LSDs are chronic progressive multi-systemic disorders, generally presenting with visceromegaly, and involvement of the central nervous system, eyes, the skeleton, and the respiratory and cardiovascular systems. The age at onset and phenotypic expression are highly variable, according to the specific enzymatic defect and tissues involved, the residual activity, and the disease-causing genotype. Enzyme-replacement therapies and substrate-reduction therapies have recently become available, leading to the improvement in symptoms, disease progression and quality of life of affected individuals. Liver involvement and hepatosplenomegaly are frequent features of LSDs and a hallmark of adult-onset forms, frequently leading to medical attention. LSDs should therefore be considered in the differential diagnosis of liver disease with organomegaly. The present document will provide a short overview of adult-onset LSDs with hepatic involvement, highlighting the specificities and systemic manifestations of the ones most frequently encountered in clinical practice, which may hint at the correct diagnosis and the appropriate treatment.

Original languageEnglish
Pages (from-to)359-367
Number of pages9
JournalDigestive and Liver Disease
Issue number4
Publication statusPublished - Apr 2020


  • Acid sphingomyelinase deficiency
  • Cholesteryl ester storage disease
  • Enzyme replacement therapy
  • Gaucher disease
  • Liver fibrosis
  • Lysosomal acid lipase deficiency
  • Niemann–Pick disease
  • Substrate reduction therapy

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


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