| Summary: | 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. C1 [Kuloglu, Zarife; Kansu, Aydan; Selbuz, Suna] Ankara Univ, Sch Med, Dept Pediat Gastroenterol Hepatol & Nutr, Ankara, Turkey. [Kalayci, Ayhan G.] Ondokuz Mayis Univ, Sch Med, Dept Pediat Gastroenterol Hepatol & Nutr, Samsun, Turkey. [Sahin, Gulseren] Dr Sami Ulus Childrens Hosp, Dept Pediat Gastroenterol Hepatol & Nutr, Ankara, Turkey. [Kirsaclioglu, Ceyda Tuna] Haematol Oncol Training & Res Hosp, Ankara Child Hlth Dis, Turkish Republ Hlth Minist, Dept Pediat Gastroenterol Hepatol & Nutr, Ankara, Turkey. [Demiroren, Kaan] Yuzuncu Yil Univ, Fac Med, Dept Pediat Gastroenterol Hepatol & Nutr, Van, Turkey. [Dalgic, Buket] Gazi Univ Univ, Dept Pediat Gastroenterol Hepatol & Nutr, Ankara, Turkey. [Kasirga, Erhun] Celal Bayar Univ, Fac Med, Dept Pediat Gastroenterol Hepatol & Nutr, Manisa, Turkey. [Onal, Zerrin] Univ Med Sci, Bakirkoy Dr Sadi Konuk Res & Training Ctr, Dept Pediat Gastroenterol Hepatol & Nutr, Istanbul, Turkey. [Islek, Ali] Ataturk Univ, Fac Med, Dept Pediat Gastroenterol Hepatol & Nutr, Erzurum, Turkey. [Eren, Esra] Ondokuz Mayis Univ, Sch Med, Samsun, Turkey. [Hosnut, Ferda Ozbay] Dr Sami Ulus Childrens Hosp, Ankara, Turkey. [Urganci, Nafiye; Usta, Ayse Merve] Sisli Etfal Training & Res Hosp, Istanbul, Turkey. [Yaman, Aytac] Haematol Oncol Training & Res Hosp, Ankara Child Hlth Dis, Turkish Republ Hlth Minist, Ankara, Turkey. [Ozkan, Tanju] Uludag Univ, Fac Med, Bursa, Turkey. [Bozbulut, Eksi] Gazi Univ, Fac Med, Ankara, Turkey. [Dogan, Guzide] Celal Bayar Univ, Fac Med, Manisa, Turkey. [Arslan, Duran] Erciyes Univ, Fac Med, Kayseri, Turkey. [Akcam, Mustafa] Suleyman Demirel Univ, Sch Med, Isparta, Turkey. [Isik, Ishak Abdurrahman] Antalya Training & Res Hosp, Antalya, Turkey. [Ecevit, Cigdem Omur; Erdemir, Gulin] Dr Behcet Uz Children Dis & Surg Training & Res H, Izmir, Turkey. [Usta, Yusuf] Mersin Univ, Fac Med, Mersin, Turkey. [Ozgur, Taner] Uludag Univ, Fac Med, Bursa, Turkey. [Ozcay, Figen; Gulsan, Meltem] Baskent Univ, Fac Med, Ankara, Turkey. [Balamtekin, Necati] Guhane Training & Res Hosp, Ankara, Turkey. [Ozturk, Yesim] Dokuz Eylul Univ, Fac Med, Izmir, Turkey. [Cantez, Serdar] Istanbul Univ, Istanbul Fac Med, Istanbul, Turkey. [Gulerman, Fulya; Guven, Burcu] Kirikkale Univ, Fac Med, Kirikkale, Turkey. [Ustundag, Gonca Handan] Bulent Ecevit Uni, Fac Med, Zonguldak, Turkey. [Emiroglu, Halil Haldun] Selcuk Univ, Fac Med, Konya, Turkey. [Karacabey, Neslihan] Erciyes Univ, Fac Med, Kayseri, Turkey. [Comba, Atakan] Hitit Univ, Fac Med, Corum, Turkey. [Aydogan, Aysen Uncuoglu] Kocaeli Univ, Sch Med, Kocaeli, Turkey. [Gokce, Selim] Bezmialem Univ, Fac Med, Istanbul, Turkey. [Kuyum, Pinar] Dokuz Eylul Univ, Fac Med, Izmir, Turkey. [Tosun, Mahya Sultan] Denizli State Hosp, Denizli, Turkey. [Tokgoz, Yavuz] Adnan Menderes Univ, Fac Med, Adnan, Turkey. [Yuksekkaya, Hasan] Necmenttin Erbakan Univ, Fac Med, Ankara, Turkey. [Tumgor, Gokhan; Agin, Mehmet] Cukurova Univ, Fac Med, Ankara, Turkey. [Eren, Makbule] Eskisehir Osmangazi Univ, Fac Med, Eskisehir, Turkey. [Baran, Masallah] Izmir Tepec Training & Res Hosp, Izmir, Turkey. [Gumus, Meltem] Konya Egitim Konya Training & Res Hosp, Konya, Turkey. [Canan, Oguz] Adana Baskent Univ, Adana, Turkey. [Kocamaz, Halil] Pamukkale Univ, Fac Med, Denizli, Turkey. [Cakir, Murat] Karadeniz Tech Univ, Fac Med, Trabzon, Turkey. [Hizli, Samil; Balci Sezer, Oya] Kecioren Training & Res Hosp, Ankara, Turkey. [Dogan, Yasar; Deveci, Ugur] Firat Univ, Fac Med, Elazig, Turkey. [Celtik, Coskun] Sifa Univ, Izmir, Turkey.
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