Screening of cholesteryl ester storage disease in risky pediatric patients

Nonalcoholic fatty liver disease which has a number of disorders in differential diagnosis is a common and severe metabolic syndrome that can progress to liver failure. With the increasing prevalence of dyslipidemia, fatty liver disease has become the most common liver disease in children. This research aims to determine cholesteryl ester storage disease among children in risk groups admitted to Akdeniz University Department of Pediatrics, then supply a treatment who diagnosed with cholesteryl ester storage disease. Dried blood samples were sent to Queen Elizabeth University Hospital Department of Biochemistry in Glasgow, United Kingdom for studying LAL enzyme activity from non-obese children and adolescents who have been investigated for hypertransaminasemia, dyslipidemia in our department, beside children with microvesiculer steatosis in liver biopsy which performed in our hospital between 2002 and 2017. A 13 patients were determined with low serum LAL enzyme level. None of these patients has been diagnosed with cholesteryl ester storage disease or Wolman Disease. The LAL levels of patients analysed with considering gender, hemoglobin, white blood cell count, platelet count, alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma glutamil transferase (GGT), direct bilirubin, total bilirubin, triglyceride, total cholesterol, high density lipoprotein (HDL), low density lipoprotein (LDL), hepatomegaly, splenomegaly, microvesiculer steatosis data. Low LAL enzyme rate is determined significantly higher in boys compared to girls (p = 0.012). A low lysosomal acid lipase odds ratio in boys is found 8.74 times higher than girls. It is determined that male gender is an independent risk factor for LAL-D. We determined a weak but significant negative correlation between LAL enzyme levels with LDL and total cholesterol levels (consecutively p = 0.009, r = -0.195 p=0.025, r:-0.170). As a result; the boys who has a high plasma total cholesterol and/or high LDL levels should be awared of the aspect of LAL-D. A genetic investigation and clinical observation of the LAL-D patients should be subject to a new research. Key Words: LAL-D, CESD, Microvesiculer steatosis, LDL, Total cholesterol