Wolman’s disease

In Wolman’s disease, there is a pathological accumulation of cholesterol esters and triglycerides. This occurs due to the deficiency of lysosomal acid lipase (LAL), the enzyme responsible for hydrolyzing cholesterol esters and triglycerides within the lysosomes of cells, particularly fibroblasts. As a result, these lipids accumulate in the lysosomes, leading to intracellular storage issues.

Key Points:

• Enzyme Deficiency: The deficiency of LAL results from mutations in the LIPA gene.
• Lipid Accumulation: Cholesterol esters and triglycerides accumulate within lysosomes due to impaired hydrolysis.
• Hypercholesterolemia: The accumulation leads to elevated cholesterol levels in the bloodstream (hypercholesterolemia) as well.
• Impact on Cells: Cells, especially fibroblasts, show signs of lipid storage primarily in tissues where low-density lipoprotein (LDL) metabolism occurs, such as the liver, spleen, and small intestine.

Pathophysiology:

• Lysosomal Dysfunction: The accumulating lipids cause lysosomal and cellular dysfunction.
• Organ Damage: The storage of lipids in organs like the liver and spleen leads to their enlargement and dysfunction.

Source | Glossary of Most Commonly Used Biomedical Terms and Concepts | Lithuanian University of Health Sciences | Academician Professor Antanas Praškevičius, Professor Laima Ivanovienė