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.

General

  • Diagnosis clinical: dried blood spot testing.

Serology:

  • High LDL.
  • Low HDL.

Treatment:

  • Sebelipase alfa - a replacement enzyme.

Gross

Microscopic

Liver

Features:

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

Notes:

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

DDx:

Small bowel

Features:

See also

References

  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. 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.