Difference between revisions of "Lysosomal acid lipase deficiency"
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===Small bowel=== | ===Small bowel=== | ||
Features: | Features: | ||
*Lipid accumulation - similar to [[Whipple's disease]].{{fact}} | *Lipid accumulation - similar to [[Whipple's disease]].{{fact}}<ref name=pmid25450374>{{Cite journal | last1 = Lopez | first1 = AM. | last2 = Posey | first2 = KS. | last3 = Turley | first3 = SD. | title = 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. | journal = Biochem Biophys Res Commun | volume = 454 | issue = 1 | pages = 162-6 | month = Nov | year = 2014 | doi = 10.1016/j.bbrc.2014.10.063 | PMID = 25450374 }}</ref> | ||
==See also== | ==See also== | ||
Revision as of 15:57, 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.[citation needed][2]
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.
- ↑ 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.