The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease
Zarife Kuloglu, Aydan Kansu, Suna Selbuz, Ayhan G. Kalayci, Gulseren Sahin, Ceyda Tuna Kirsaclioglu, Kaan Demiroren, Buket Dalgic, Erhun Kasirga, Zerrin Onal, Ali Islek, Esra Eren, Ferda Ozbay Hosnut, Nafiye Urganci, Ayse Merve Usta, Aytac Yaman, Tanju Ozkan, Eksi Bozbulut, Guzide Dogan, Duran Arslan, Mustafa Akcam, Ishak Isik, Cigdem Ecevit, Gulin Erdemir, Yusuf Usta, Taner Ozgur, Figen Ozcay, Meltem Gulsan, Necati Balamtekin, Yesim Ozturk, Serdar Cantez, Fulya Gulerman, Burcu Guven, Gonca Ustundag, H. H. Emiroglu, Neslihan Karacabey, Atakan Comba, Aysen Aydogan, Selim Gokce, Pinar Kuyum, Mahya Sultan Tosun, Yavuz Tokgoz, Hasan Yuksekkaya, Gokhan Tumgor, Mehmet Agin, Makbule Eren, Masallah Baran, Meltem Gumus, Oguz Canan, Halil Kocamaz, Murteza Cakir, Samil Hizli, Oya Balci Sezer, Yasar Dogan, Ugur Deveci, Coskun Celtik, Neslihan Eksi Bozbulut, Guzide Dogan, Ozlem Durmaz Ugurcan, Yesim Ozturk, Necati Balamtekin, Nelgin Gerenli, None None
article (Uluslararası, Hakemli) | Yazar(lar): Zarife Kuloglu, Aydan Kansu, Suna Selbuz, Ayhan G. Kalayci, Gulseren Sahin, Ceyda Tuna Kirsaclioglu, Kaan Demiroren, Buket Dalgic, Erhun Kasirga, Zerrin Onal, Ali Islek, Esra Eren, Ferda Ozbay Hosnut, Nafiye Urganci, Ayse Merve Usta, Aytac Yaman, Tanju Ozkan, Eksi Bozbulut,
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). Asecond 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.