Lysosomal Acid Lipase Deficiency: An Under-diagnosed Cause of Liver Dysfunction
Lysosomal acid lipase deficiency is characterized by the accumulation of cholesteryl esters and triglycerides. Patients present with gastrointestinal symptoms, liver dysfunction, and dyslipidemia, progressing to premature atherosclerosis and cardiovascular disease. Due to its clinical variability and the similarity with other, more common disorders, lysosomal acid lipase deficiency is under-recognized. Identifying this disease by using specific diagnostic testing is critical since enzyme replacement therapy (ERT) is available and very effective.
Originally presented on June 25, 2015 in Salt Lake City, Utah.
Irene De Biase, MD, PhD
Medical Director, Biochemical Genetics Lab and Newborn Screening Lab, ARUP Laboratories
Assistant Professor of Pathology, University of Utah School of Medicine
Dr. De Biase is an assistant professor of pathology at the University Of Utah School Of Medicine. She received her MD and PhD in cellular and molecular genetics at the Federico II University in Naples, Italy. Dr. De Biase served as a postdoctoral fellow in molecular genetics at the University of Oklahoma Health Sciences Center and as a postdoctoral fellow in clinical biochemical genetics at the Greenwood Genetics Center in South Carolina. She was a recipient of the SERGG student travel award and SIMD student travel award and is a member of the Society for Inherited Metabolic Disorders. Dr. De Biase’s research interests include lysosomal storage disorders and fatty acid oxidation disorders. Dr. De Biase is board certified in clinical biochemical genetics.
After this presentation, participants will be able to:
- Explore the role of the lysosomal acid lipase (LAL) on cholesterol homeostasis.
- Describe the clinical findings observed in the two phenotype variants of LAL deficiency (LAL-D): Wolman disease (WD)and cholesteryl ester storage disease (CESD).
- Identify the recommended screening criteria and the required investigations to diagnose LAL-D.
- Understand the treatment options and the results of clinical trials using recombinant human LAL.
University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories