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The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease
Zarife Kuloglu1, Aydan Kansu1, Suna Selbuz1
1Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara University School of Medicine, Ankara.
Insights
Lysosomal acid lipase deficiency (LAL-D) appears rare in children with unexplained liver disease, with a prevalence of 0.1%. This study investigated LAL-D in a high-risk pediatric population, identifying key clinical features.
Area of Science:
- Pediatric Hepatology
- Genetic Metabolic Disorders
- Rare Diseases
Background:
- Lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed due to nonspecific symptoms.
- Early diagnosis is crucial for managing LAL-D and preventing severe liver complications.
Purpose of the Study:
- To determine the prevalence of LAL-D in children with unexplained liver disease.
- To identify demographic and clinical characteristics associated with LAL-D in this population.
Main Methods:
- A prospective, multicenter, cross-sectional study enrolled 810 children (3 months-18 years) with unexplained liver issues.
- Lysosomal acid lipase (LAL) activity was measured via dried blood spot, classifying results as LAL-D, intermediate, or normal.
- Confirmation testing was performed for intermediate LAL activity results.
Main Results:
- LAL-D was identified in 2 siblings, resulting in a study population prevalence of 0.1%.
- Common features in identified LAL-D patients included dyslipidemia, liver steatosis, and elevated aminotransferases.
- One patient exhibited growth failure and advanced liver fibrosis on biopsy.
Conclusions:
- LAL-D appears to be a rare condition, even within a selected high-risk pediatric cohort.
- The findings underscore the importance of considering LAL-D in children presenting with unexplained liver abnormalities.
- Further research may be needed to refine diagnostic criteria and understand the full spectrum of LAL-D in children.
Objectives:
Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study.
Methods:
Patients (aged 3 months-18 years) who had unexplained transaminase elevation, unexplained hepatomegaly or hepatosplenomegaly, obesity-unrelated liver steatosis, biopsy-proven cryptogenic fibrosis and cirrhosis, or liver transplantation for cryptogenic cirrhosis were enrolled. A Web-based electronic data collection system was used. LAL activity (nmol/punch/h) was measured using the dried blood spot method and classified as LAL-D (<0.02), intermediate (0.02-0.37) or normal (> 0.37). A second dried blood spot sample was obtained from patients with intermediate LAL activity for confirmation of the result.
Results:
A total of 810 children (median age 5.6 years) from 795 families were enrolled. The reasons for enrollment were unexplained transaminase elevation (62%), unexplained organomegaly (45%), obesity-unrelated liver steatosis (26%), cryptogenic fibrosis and cirrhosis (6%), and liver transplantation for cryptogenic cirrhosis (<1%). LAL activity was normal in 634 (78%) and intermediate in 174 (21%) patients. LAL-D was identified in 2 siblings aged 15 and 6 years born to unrelated parents. Dyslipidemia, liver steatosis, and mild increase in aminotransferases were common features in these patients. Moreover, the 15-year-old patient showed growth failure and microvesicular steatosis, portal inflammation, and bridging fibrosis in the liver biopsy. Based on 795 families, 2 siblings in the same family were identified as LAL-D cases, making the prevalence of LAL-D in this study population, 0.1% (0.125%-0.606%). In the repeated measurement (76/174), LAL activity remained at the intermediate level in 38 patients.
Conclusions:
Overall, the frequency of LAL-D patients in this study (0.1%) suggests that LAL-D seems to be rare even in the selected high-risk population.
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