Clinical Features of Lysosomal Acid Lipase Deficiency
Language English Country United States Media print
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
26252914
PubMed Central
PMC4645959
DOI
10.1097/mpg.0000000000000935
Knihovny.cz E-resources
- MeSH
- Alanine Transaminase blood MeSH
- Aspartate Aminotransferases blood MeSH
- Cholesterol blood MeSH
- Child MeSH
- Adult MeSH
- Liver Cirrhosis etiology MeSH
- Liver * metabolism pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Lipase deficiency MeSH
- Longitudinal Studies MeSH
- Adolescent MeSH
- Young Adult MeSH
- Cholesterol Ester Storage Disease * blood pathology MeSH
- Child, Preschool MeSH
- Prospective Studies MeSH
- Spleen pathology MeSH
- Sterol Esterase deficiency MeSH
- Liver Transplantation MeSH
- Wolman Disease * blood pathology MeSH
- Fatty Liver blood etiology MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Alanine Transaminase MeSH
- Aspartate Aminotransferases MeSH
- Cholesterol MeSH
- Lipase MeSH
- Sterol Esterase MeSH
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.
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ClinicalTrials.gov
NCT01528917