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. | |||
Treatment: | |||
*Sebelipase alfa - a replacement enzyme.<ref name=pmid27878737>{{Cite journal | last1 = Frampton | first1 = JE. | title = Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency. | journal = Am J Cardiovasc Drugs | volume = 16 | issue = 6 | pages = 461-468 | month = Dec | year = 2016 | doi = 10.1007/s40256-016-0203-2 | PMID = 27878737 }}</ref><ref name=pmid26352813>{{Cite journal | last1 = Burton | first1 = BK. | last2 = Balwani | first2 = M. | last3 = Feillet | first3 = F. | last4 = Barić | first4 = I. | last5 = Burrow | first5 = TA. | last6 = Camarena Grande | first6 = C. | last7 = Coker | first7 = M. | last8 = Consuelo-Sánchez | first8 = A. | last9 = Deegan | first9 = P. | title = A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. | journal = N Engl J Med | volume = 373 | issue = 11 | pages = 1010-20 | month = Sep | year = 2015 | doi = 10.1056/NEJMoa1501365 | PMID = 26352813 }}</ref> | |||
==Gross== | ==Gross== | ||
*[[ | *Hepatosplenomegaly (hepatomegaly, [[splenomegaly]]). | ||
==Microscopic== | ==Microscopic== | ||
===Liver=== | |||
Features: | Features: | ||
*Microvesicular or mixed steatosis (microvesicular and macrovesicular). | *Microvesicular or mixed steatosis (microvesicular and macrovesicular). | ||
*+/-Cholesterol clefts. | |||
Notes: | |||
*Usually microvesicular predominant. | *Usually microvesicular predominant. | ||
*Portal fibrosis is more typical than central fibrosis usually seen in [[MASH]]. | |||
DDx: | DDx: | ||
*[[Microvesicular steatosis]]. | *[[Microvesicular steatosis]]. | ||
===Small bowel=== | |||
Features: | |||
*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== | ||
Latest revision as of 19:20, 16 May 2024
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:
Gross
- Hepatosplenomegaly (hepatomegaly, splenomegaly).
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 MASH.
DDx:
Small bowel
Features:
- Lipid accumulation - similar to Whipple's disease.[citation needed][4]
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.
- ↑ 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.
- ↑ 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.
- ↑ 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.