Identification of clinical manifestations suggestive of acid lipase deficiency in children and adolescents of the FUPRECOL study.

  • Correa-Bautista, Jorge Enrique (PI)
  • Ramirez-Velez , Robinsón (CoI)

Project: Research Project

Project Details


The Fuprecol Study (Association of Prensil Force with Early Manifestations of Cardiovascular Risk in Colombian Children and Adolescents) was a study conducted by this research group that included the analysis of 2,526 children and 3.324 adolescents between 9 and 17.9 years of age, belonging to official educational institutions in Bogotá, had as their main objective to determine manifestations of cardiovascular risk in the "apparently healthy" population of Colombian children and adolescents. Variables such as physical activity level, abdominal circumference, lipid profile, among others, were included in this study. Within this group of patients, a prevalence of Metabolic Syndrome of 11% was identified. The most frequent component was alteration of c-HDL (24.9%), followed by altered glucose (18.7%), high blood pressure (14.7%), high triglycerides (9.0%) and waist circumference > 75th percentile (3.7%). Considering that the presence of Metabolic Syndrome and dyslipidaemia, which are clinical signs present in patients with Acid Lipase Deficiency, a rare and usually under-diagnosed entity, cardiovascular disease has a multifactorial origin, and a risk factor should be considered in the context of the others. Cardiovascular risk factors, classic or traditional, are divided into two large groups: non-modifiable (age, sex and family history), and modifiable (dyslipidaemia, smoking, diabetes, high blood pressure, obesity and sedentary lifestyle).Genetic causes of cardio-vascular disease include a rare, rarely diagnosed disease called acid lipase deficiency (LAL), a progressive, life-threatening cholesterol metabolism disorder inherited in an autosomal recessive manner. Lysosomal acid lipase is essential for the hydrolysis of cholesterol esters and triglycerides in lysosomes, so deficiency of this enzyme results in the accumulation of lipids in the tissues of affected individuals 1 - 3, resulting in clinical symptoms and symptoms related to the body tissues that are affected. 1.2 Bi-allelic mutations in the acid lipase gene (LIPA), which is located in the long arm of chromosome 10 (10q23.2-q23.3), result in deficiency of the activity of the enzyme lysosomal acid lipase (LAL-D), causing various clinical phenotypes. This entity has frequently been divided into two types or clinical forms, the early onset form or Wolman's disease and the late onset clinical form called Cholesterol Ester Depot Disease (CESD). 1 The disease occurs through a continuum, from early childhood to adulthood, with common characteristics including hepatomegaly, elevated serum transaminase concentrations, and progressive fibrosis or cirrhosis of the liver. 4-7 In infants, marked failure in growth and rapidly progressive liver disease are prominent features of historically known Wolman's disease and are also key contributors to mortality, with the occurrence of death in the first 6 months of life. 1,4-7 A recent study found that the prognosis of infant patients with LAL-D is extremely poor. The mean age at death was 3.7 months, even in those patients who received hematopoietic cell transplantation. 3 Symptoms of late-onset LAL deficiency (or CESD), typically begin after childhood and range from three years of age to adolescence and adulthood. 8,9. Characteristics of the disease include hepatomegaly, heart disease, hyperlipidemia and hepatic steatosis. Life expectancy and age of onset are unpredictable, and symptoms of the disease vary in severity. In many cases, mortality is caused by liver failure or complications of coronary artery disease. Due to the variable nature of the condition and the overlap with other non-specific common medical conditions, many affected individuals are under-diagnosed to identify patients with a suggestive clinical picture of Lipase Acid Deficiency that merit interventions to complete the diagnosis and reduce complications and morbidity associated with the pathology, as part of the Fuprecol study. This is a cross-sectional study of 300 school-age children and adolescents between the ages of 9 and 17 living in Bogotá and belonging to 9 educational institutions in urban areas of Bogotá. In which anthropometric values and body composition, level and nutritional status, blood lipid values will be reviewed and the number of patients with signs and symptoms will be determined. 


Lipasa acida, niños y adolescentes
Short titleLipase acid and FUPRECOL
Effective start/end date10/1/1710/3/17

UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This project contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

Main Funding Source

  • National


  • Bogotá D.C.


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