Format

Send to

Choose Destination
J Pediatr Gastroenterol Nutr. 2018 Dec 11. doi: 10.1097/MPG.0000000000002224. [Epub ahead of print]

The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease.

Author information

1
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara University School of Medicine, Ankara.
2
School of Medicine, Pediatric Gastroenterology, Hepatology and Nutrition, Ondokuz Mayıs University, Samsun.
3
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Dr. Sami Ulus Children's Hospital.
4
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Turkish Republic Health Ministry, Ankara Child Health Diseases, Haematology Oncology Training and Research Hospital, Ankara.
5
Faculty of Medicine, Pediatric Gastroenterology, Hepatology and Nutrition, Yuzuncu Yıl University, Van.
6
Faculty of Medicine, Pediatric Gastroenterology, Hepatology and Nutrition, Gazi University, Ankara.
7
Faculty of Medicine, Pediatric Gastroenterology, Hepatology and Nutrition, Celal Bayar University, Manisa.
8
Department of Pediatric Gastroenterology, Hepatology and Nutrition, University of Medical Sciences, Bakırkoy Dr Sadi Konuk Research and Training Center, İstanbul.
9
Faculty of Medicine, Pediatric Gastroenterology, Hepatology and Nutrition, Atatürk University, Erzurum, Turkey.

Abstract

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.

Supplemental Content

Full text links

Icon for Wolters Kluwer
Loading ...
Support Center