Difference between revisions of "Lysosomal acid lipase deficiency"
Jump to navigation
Jump to search
| Line 17: | Line 17: | ||
==Microscopic== | ==Microscopic== | ||
===Liver=== | |||
Features: | Features: | ||
*Microvesicular or mixed steatosis (microvesicular and macrovesicular). | *Microvesicular or mixed steatosis (microvesicular and macrovesicular). | ||
| Line 27: | Line 28: | ||
DDx: | DDx: | ||
*[[Microvesicular steatosis]]. | *[[Microvesicular steatosis]]. | ||
===Small bowel=== | |||
Features: | |||
*Lipid accumulation - similar to [[Whipple's disease]]. | |||
==See also== | ==See also== | ||
Revision as of 15:54, 12 June 2017
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:
- Lipid accumulation - similar to Whipple's disease.
See also
References
- ↑ 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.