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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)
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
lysosomal storage disease
References
- Medscape Oncology. Dec 8, 2015
FDA OKs First Drug (Kanuma) for Rare Enzyme Disease
http://www.medscape.com/viewarticle/855617