Lysosomal acid lipase deficiency investigation in patients diagnosed with primary hyperlipidemia

Cholesteryl ester storage disease (CESD) is a disease where a considerable decrease in the activity of lysosomal acid lipase (LAL) enzyme resulting from the mutation in lipa (lysosomal acid lipase) gene is observed, which goes along with dyslipidemia and involves a wide clinical condition ranging from hepatosteatosiz to liver fibrozis; and whose diagnosis is usually skipped. LAL deficiency should be taken into consideraiton for patients who are suffering from hepatosplenomegaly and/or high transaminase level, high ldl and/or low hdl without having problems of obesity or metabolic syndrome. Our study included 75 patients who applied to Gaziantep University Faculty of Medicine Pediatric Endocrinology and Metabolic Diseases Clinic, 35 patients were excluded out of study because of having secondary hyperlipidemia, 15 patients were diagnosed with non-familial hyperlipidemia, and 25 patients were diagnosed with familial hyperlipidemia. Patients were divided into three groups according to phenotypes; type 2, type 3 and type 5, at the same time patients were divided into three groups according to the treatment as applying lipid aferesis, lipid lowering treatment and dieting, and only dieting group. Gender, age, height, weight, height standard deviation score, weight standard deviation score, follow-up period, complaints, relative body weight were recorded. Lipid profiles, transaminase levels, complete blood count, hormone profiles, bone densitometry (DEXA), echocardiography and LAL enzyme profiles of patients were evaluated. Blood samples were taken to filter paper from totally 40 patients; 15 patients with non-familial hyperlipidemia to eveluate LAL activity and also the same samples were taken from 15 patients with primary hyperlipidemia and 25 patients with familial hyperlipidemia to eveluate LAL levels. We determined the LAL enzyme levels at the normal reference ranges in all of 40 patients with primary hyperlipidemia. İn our study there was no relationship between familial hyperlipidemia and lal levels but we think results must be eveluated with the larger number of patients.