Difference between revisions of "Lysosomal acid lipase deficiency"

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Treatment:
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>
*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==
*[[Hepatomegaly]].
*Hepatosplenomegaly (hepatomegaly, [[splenomegaly]]).


==Microscopic==
==Microscopic==
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Notes:
Notes:
*Usually microvesicular predominant.
*Usually microvesicular predominant.
*Portal fibrosis is more typical than central fibrosis usually seen in [[NASH]].
*Portal fibrosis is more typical than central fibrosis usually seen in [[MASH]].


DDx:
DDx:

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:

  • 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 MASH.

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.