Difference between revisions of "Lysosomal acid lipase deficiency"
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==General== | ==General== | ||
*Diagnosis clinical: dried blood spot testing. | *Diagnosis clinical: dried blood spot testing. | ||
Serology: | |||
*High LDL. | |||
*Low HDL. | |||
==Gross== | ==Gross== | ||
Revision as of 15:45, 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.
Gross
Microscopic
Features:
- Microvesicular or mixed steatosis (microvesicular and macrovesicular).
- +/-Cholesterol clefts.
Note:
- Usually microvesicular predominant.
DDx:
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.