The Frequency of Lysosomal Acid Lipase Deficiency in Children With

• Main Authors: Kuloglu, Z, Kansu, A, Selbuz, S, Kalayci, AG, Sahin, G, Kirsaclioglu, CT, Demiroren, K, Dalgic, B, Kasirga, E, Onal, Z, Islek, A, Eren, E, Hosnut, FO, Urganci, N, Yaman, A, Ozkan, T, Bozbulut, E, Dogan, G, Eksi Bozbulut, N, Durmaz Ugurcan, O, Usta, AM, Arslan, D, Akcam, M, Isik, IA, Ecevit, CO, Usta, Y, Ozgur, T, Ozcay, F, Balamtekin, N, Ozturk, Y, Cantez, S, Gulerman, F, Ustundag, GH, Emiroglu, HH, Karacabey, N, Comba, A, Erdemir, G, Aydogan, AU, Gokce, S, Kuyum, P, Gulsan, M, Tosun, MS, Tokgoz, Y, Guven, B, Yuksekkaya, H, Tumgor, G, Eren, M, Baran, M, Gumus, M, Canan, O, Kocamaz, H, Gerenli, N, Cakir, M, Agin, M, Hizli, S, Dogan, Y, Celtik, C, Deveci, U, Balci Sezer, O
• Format: Article in Journal/Newspaper
• Language: English
• Published: 2019
• Subjects: Baran; Buket; Duran; Gulin; Sultan; sami
• Online Access: http://hdl.handle.net/11499/29866

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.