The deficit of lysosomal acid lipase (LAL) is an infrequent (1: 40,000300,000 prevalence), autosomal recessive, monogenic pathology. It can aggressively (Wolmans disease): malabsorption and severe dyslipidemia with survival less than one year of life. The cholesterol ester storage disease (CESD) presents with dyslipidemia, liver disease and early cardiovascular disease.
Goals: Descriptive study of the prevalence of LAL deficiency and carriers in a subsample of patients with hypercholesterolemia. Comparison with data already published
Materials and methods: Of 42 patients monitored in the clinic for suspected familial hypercholesterolemia but a genetic study for negative HFC, 12 patients with persistent dyslipidemia were selected despite strict dietary measures. A sample of dried blood was collected in which the enzyme activity was analyzed, with prior informed consent. Reference values were considered for LAL 0.61 −2.79 nmol/punch/h. For LAL activity values with values close to the minimum of the range in the reference population, the genetic variant c.894G> A (p.delS275_Q298) [Exon 8 Splice Junction Mutation, E8SJM] was studied. We analyzed: age, sex, time since diagnosis, BMI, nutritional status, total cholesterol, HDL-cholesterol, LDL-cholesterol, triglycerides, treatment with statins/resins; family history of obesity, dyslipidemia and cardiovascular disease early. Data processing with SPSS-19.0.
Results: We studied 10 patients, 60% males, average age at diagnosis 8±2.5 years, mean time from diagnosis 4.5±1.2 years. Mean BMI 20.2±3.1 Kg/m2, overweight 20%, obesity 10%. Average values of: total cholesterol 225±29 mg/dl, HDL-cholesterol 50±18 mg/dl, LDL-cholesterol 161±27 mg/dl, triglycerides 101±72 mg/dl. Hepatic echo 2/10 mild steatosis. Statin treatment: 20%, 30% ezetrol, 50% resins. Family history of: obesity 2/10, dyslipidemia 7/10 and early cardiovascular disease in the father of 1 patient Mean values of: LAL 1.32±0.58 nmol/punch/h and enzymatic activity 98.1±52%. Values close to the minimum range in 2 patients, both with normal E8SJM and 1 below with genetic heterozygosis mutation.
Conclusions: LAL deficiency is an infrequent entity, detecting a carrier (10%); LAL deficit screening may be beneficial in patients with diliphemia not affiliated. The data coincide with other nearby CCAA (Navarra)
27 - 29 Sep 2018
European Society for Paediatric Endocrinology