cholesterol ester storage disease; lysosomal acid lipase deficiency; Wolman's disease

Etiology

• lysosomal acid lipase deficiency

Epidemiology

• rare

Pathology

• cholesterol esters & triglycerides build up liver & the cardiovascular system
• Wolman disease is a rapidly progressive form
  • often presents in infants 2-4 months of age
  • infants rarely survive beyond a year
• cholesteryl ester storage disease is a milder version of lysosomal acid lipase deficiency
  • presents later in childhood & later
  • life expectancy depends on disease severity.

Laboratory

• lysosomal acid lipase in fibroblasts
• lysosomal acid lipase in leukocytes

Management

• sebelipase alfa (Kanuma)

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis
• lysosomal storage disease