*Corresponding author:Giusy Ranucci, Bambino Gesù Research Children Hospital, Division of Metabolism, Piazza di Sant’Onofrio, 4, 00165 Rome, Italy
Received: June 13, 2018; Published: July 02, 2018
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Background While a total Lysosomal Acid Lipase activity deficiency determines Wolman Disease, in partial deficiency there’s a residual enzyme activity. Onset and clinical features of partial LAL-d are very variable. Secondary LAL-d has been found in patients with non alcoholic fatty liver disease obesity related. The aim of this study was to evaluate Lysosomal Acid Lipase activity (LAL-A) deficiency determined by dried blood spotting (DBS) in pediatric patients with known and unknown liver disease in order to clarify the role of this test in pediatric clinical practice. Relationship between LAL-A and liver enzymes, dyslipidemia and other parameters of metabolic syndrome was investigated.
Results: We evaluated 51 patients (36 males) with a median age of 13 years, 25 subjects with a liver disease of unknown origin and 26 with a known liver disease. LAL-A was determined by DBS on filter paper; specific genetic analysis was performed in patients with LAL-A less then the lower limit of normal. No patient resulted affected by genetically determined LAL deficiency. A low LAL-A at DBS was found in 11 (22%) patients (8 males) with variable reduction of enzymatic activity from 15% to 50% of the lower limit of normal. On ultrasound, liver steatosis was found in all patients with LAL deficiency. A significant inverse correlation between LAL-A and age of patients, triglycerides and uric acid serum levels was found. Low LAL-A subjects had significantly higher triglycerides and uric acid levels than normal one. Finally, Wilson Disease (WD) patients with low LAL-A had body-mass-index, total cholesterol, triglycerides and uric acid levels higher than normal LAL-A WD patients.
Conclusion: The study shows that different liver diseases may affect LAL activity that is inversely related to the age of patients and both triglycerides and uric acid serum levels. LAL-A is reduced in a subgroup of WD patients that showed higher BMI, total cholesterol, triglycerides and uric acid levels.
Keywords: Cholesterol Esteryl Storage Disease; Steatosis; Dyslipidaemia; Wilson Disease; Metabolic Syndrome
Abbreviations: LAL: Lysosomal Acid Lipase, LIPA: Lipase A, LAL-A: LAL activity, DBS: Dried Blood spots, NAFLD: Non Alcoholic Fatty Liver Disease, NASH: Non Alcoholic Steatohepatitis, ALT: Alanine Aminotransferase, BMI: Body Mass Index, HOMA-IR: Insuline Resistance Index, NAS: NAFLD Activity Score, WD: Wilson Disease, BA: Biliary Atresia, AIH: Autoimmune Hepatitis, INR: International Normalised Ratio, US: Ultra Sound, GGT: Gamma-Glutamyl Transferase, PT: Prothrombin Time, aPTT: Activated Thromboplastin Time, T-C: Total Cholesterol, LDL-C: LDL-Cholesterol, HDL-C: HDL-Cholesterol, PNPLA3: Patatin-Like Phospholipase Domain, PCR: Polymerase Chain Reaction