Lysosomal acid lipase deficiency

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Lysosomal acid lipase deficiency, abbreviated as LAL-D, is a lysosomal storage disorder that is inherited autosomal recessive.[1]

It is also known as Wolman disease.


  • Diagnosis clinical: dried blood spot testing.


  • High LDL.
  • Low HDL.


  • Sebelipase alfa - a replacement enzyme.[2][3]





  • Microvesicular or mixed steatosis (microvesicular and macrovesicular).
  • +/-Cholesterol clefts.


  • Usually microvesicular predominant.
  • Portal fibrosis is more typical than central fibrosis usually seen in NASH.


Small bowel


See also


  1. Reiner, Ž.; Guardamagna, O.; Nair, D.; Soran, H.; Hovingh, K.; Bertolini, S.; Jones, S.; Ćorić, M. et al. (Jul 2014). "Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.". Atherosclerosis 235 (1): 21-30. doi:10.1016/j.atherosclerosis.2014.04.003. PMID 24792990.
  2. Frampton, JE. (Dec 2016). "Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency.". Am J Cardiovasc Drugs 16 (6): 461-468. doi:10.1007/s40256-016-0203-2. PMID 27878737.
  3. Burton, BK.; Balwani, M.; Feillet, F.; Barić, I.; Burrow, TA.; Camarena Grande, C.; Coker, M.; Consuelo-Sánchez, A. et al. (Sep 2015). "A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.". N Engl J Med 373 (11): 1010-20. doi:10.1056/NEJMoa1501365. PMID 26352813.
  4. Lopez, AM.; Posey, KS.; Turley, SD. (Nov 2014). "Deletion of sterol O-acyltransferase 2 (SOAT2) function in mice deficient in lysosomal acid lipase (LAL) dramatically reduces esterified cholesterol sequestration in the small intestine and liver.". Biochem Biophys Res Commun 454 (1): 162-6. doi:10.1016/j.bbrc.2014.10.063. PMID 25450374.