Clinical Features of Lysosomal Acid Lipase Deficiency

Barbara K. Burton*, Patrick B. Deegan, Gregory M. Enns, Ornella Guardamagna, Simon Horslen, Gerard K. Hovingh, Steve J. Lobritto, Vera Malinova, Valerie A. McLin, Julian Raiman, Maja Di Rocco, Saikat Santra, Reena Sharma, Jolanta Sykut-Cegielska, Chester B. Whitley, Stephen Eckert, Vassili Valayannopoulos, Anthony G. Quinn

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

69 Scopus citations

Abstract

Objective: The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. Methods: Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and imaging data on living patients to develop a longitudinal dataset. Results: A total of 49 patients were enrolled; 48 had confirmed LAL D. Mean age at first disease-related abnormality was 9.0 years (range 0-42); mean age at diagnosis was 15.2 years (range 1-46). Twenty-nine (60%) were male patients, and 27 (56%) were <20 years of age at the time of consent/assent. Serum transaminases were elevated in most patients with 458 of 499 (92%) of alanine aminotransferase values and 265 of 448 (59%) of aspartate aminotransferase values above the upper limit of normal. Most patients had elevated low-density lipoprotein (64% patients) and total cholesterol (63%) at baseline despite most being on lipid-lowering therapies, and 44% had high-density lipoprotein levels below the lower limit of normal. More than half of the patients with liver biopsies (n=31, mean age 13 years) had documented evidence of steatosis (87%) and/or fibrosis (52%). Imaging assessments revealed that the median liver volume was ∼1.15 multiples of normal (MN) and median spleen volume was ∼2.2 MN. Six (13%) patients had undergone a liver transplant (ages 9-43.5 years). Conclusion: This study provides the largest longitudinal case review of patients with LAL D and confirms that LAL D is predominantly a pediatric disease causing early and progressive hepatic dysfunction associated with dyslipidemia that often leads to liver failure and transplantation.

Original languageEnglish (US)
Pages (from-to)619-625
Number of pages7
JournalJournal of pediatric gastroenterology and nutrition
Volume61
Issue number6
DOIs
StatePublished - Dec 1 2015

Keywords

  • LIPA deficiency
  • Wolman disease
  • cholesteryl ester storage disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Gastroenterology

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