The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Lysosomal acid lipase (LAL) regulates cholesterol homeostasis by influencing genes involved in cholesterol synthesis and uptake.
• LAL deficiency typically manifests in infancy as Wolman disease, characterized by severe symptoms like failure to thrive and liver failure.

Observation:

• A 2-year-old patient presented with hypercholesterolemia and elevated liver enzymes, initially misdiagnosed with familial hypercholesterolemia.
• The patient lacked a significant family history, prompting further investigation.

Findings:

• Complete lysosomal acid lipase deficiency was diagnosed in the patient.
• The patient's clinical presentation more closely resembled cholesteryl ester storage disease, a milder LAL deficiency phenotype.

Implications:

• This case highlights the importance of considering LAL deficiency in pediatric hypercholesterolemia, even with atypical presentations.
• Recognizing varied LAL deficiency phenotypes is essential for accurate diagnosis and timely intervention in cholesterol metabolism disorders.