Difference between revisions of "Lysosomal acid lipase deficiency"

From Libre Pathology
Jump to navigation Jump to search
 
(12 intermediate revisions by the same user not shown)
Line 1: Line 1:
'''Lysosomal acid lipase deficiency''', abbreviated as '''LAL-D''', is a [[lysosomal storage disorder]] that is inherited autosomal recessive.<ref>{{Cite journal  | last1 = Reiner | first1 = Ž. | last2 = Guardamagna | first2 = O. | last3 = Nair | first3 = D. | last4 = Soran | first4 = H. | last5 = Hovingh | first5 = K. | last6 = Bertolini | first6 = S. | last7 = Jones | first7 = S. | last8 = Ćorić | first8 = M. | last9 = Calandra | first9 = S. | title = Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. | journal = Atherosclerosis | volume = 235 | issue = 1 | pages = 21-30 | month = Jul | year = 2014 | doi = 10.1016/j.atherosclerosis.2014.04.003 | PMID = 24792990 }}</ref>
'''Lysosomal acid lipase deficiency''', abbreviated as '''LAL-D''', is a [[lysosomal storage disorder]] that is inherited autosomal recessive.<ref>{{Cite journal  | last1 = Reiner | first1 = Ž. | last2 = Guardamagna | first2 = O. | last3 = Nair | first3 = D. | last4 = Soran | first4 = H. | last5 = Hovingh | first5 = K. | last6 = Bertolini | first6 = S. | last7 = Jones | first7 = S. | last8 = Ćorić | first8 = M. | last9 = Calandra | first9 = S. | title = Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. | journal = Atherosclerosis | volume = 235 | issue = 1 | pages = 21-30 | month = Jul | year = 2014 | doi = 10.1016/j.atherosclerosis.2014.04.003 | PMID = 24792990 }}</ref>
It is also known as '''Wolman disease'''.


==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==
*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.
*Portal fibrosis is more typical than central fibrosis usually seen in [[NASH]].


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 16:10, 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.[2][3]

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. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
Retrieved from "https://librepathology.org/w/index.php?title=Lysosomal_acid_lipase_deficiency&oldid=47496"