Ahmet Rauf Göktepe, Mehmet Keskin
Experimental and Applied Medical Science - 2025;6(4):349-357
Objective: Cholesteryl ester storage disease (CESD) is a condition characterized by significantly reduced lysosomal acid lipase (LAL) enzyme activity due to a mutation in the LIPA gene. This results in dyslipidemia and a broad spectrum of clinical manifestations, from hepatosteatosis to liver fibrosis, often leading to missed diagnoses. LAL deficiency should be considered in patients with hepatosplenomegaly and/or elevated transaminase levels, high LDL, and/or low HDL in the absence of obesity or metabolic syndrome. Methods: Our study included 75 patients who applied to the Pediatric Endocrinology and Metabolic Diseases Clinic at Gaziantep University. Thirty -five patients were excluded due to secondary hyperlipidemia, 15 were diagnosed with non -familial hyperlipidemia, and 25 with familial hyperlipidemia. Patients were phenotypically divided into three groups: types 2a, 3 and 5. They were also grouped by treatment: lipid apheresis, lipid -lowering medication with diet, and diet alone. Data on gender, age, height, weigh t, follow-up period, and complaints were recorded. Lipid profiles, transaminase levels, blood counts, hormone profiles, bone densitometry (DEXA), echocardiography, and LAL enzyme activity were evaluated. Blood samples were taken from 40 pa tients to assess LAL activity. Results: We determined the LAL enzyme levels at the normal reference ranges in all of 40 patients with primary hyperlipidemia. Conclussion : In our study there was no relationship between familial hyperlipidemia and LAL levels but we think r esults must be eveluated with the larger number of patients.
