Lysosomal acid lipase deficiency - Revision history

Michael at 19:20, 16 May 2024

2024-05-16T19:20:37Z

← Older revision		Revision as of 19:20, 16 May 2024
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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:

2017-06-12T16:10:00Z

Gross

← Older revision		Revision as of 16:10, 12 June 2017
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	==Gross==		==Gross==
	*[[~~Hepatomegaly~~]].		*Hepatosplenomegaly (hepatomegaly, [[splenomegaly]]).

	==Microscopic==		==Microscopic==

2017-06-12T16:00:59Z

General

← Older revision		Revision as of 16:00, 12 June 2017
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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==

2017-06-12T15:59:22Z

General

← Older revision		Revision as of 15:59, 12 June 2017
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	Treatment:		Treatment:
	*Sebelipase alfa - a replacement enzyme.		*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>

	==Gross==		==Gross==

2017-06-12T15:57:35Z

Small bowel

← Older revision		Revision as of 15:57, 12 June 2017
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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==

2017-06-12T15:55:34Z

Small bowel

← Older revision		Revision as of 15:55, 12 June 2017
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	===Small bowel===		===Small bowel===
	Features:		Features:
	*Lipid accumulation - similar to [[Whipple's disease]].		*Lipid accumulation - similar to [[Whipple's disease]].{{fact}}

	==See also==		==See also==

2017-06-12T15:54:11Z

Microscopic

← Older revision		Revision as of 15:54, 12 June 2017
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	==Microscopic==		==Microscopic==
			===Liver===
	Features:		Features:
	*Microvesicular or mixed steatosis (microvesicular and macrovesicular).		*Microvesicular or mixed steatosis (microvesicular and macrovesicular).
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	DDx:		DDx:
	*[[Microvesicular steatosis]].		*[[Microvesicular steatosis]].

			===Small bowel===
			Features:
			*Lipid accumulation - similar to [[Whipple's disease]].

	==See also==		==See also==

2017-06-12T15:50:56Z

General

← Older revision		Revision as of 15:50, 12 June 2017
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	*High LDL.		*High LDL.
	*Low HDL.		*Low HDL.

			Treatment:
			*Sebelipase alfa - a replacement enzyme.

	==Gross==		==Gross==

2017-06-12T15:48:48Z

Microscopic

← Older revision		Revision as of 15:48, 12 June 2017
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	*+/-Cholesterol clefts.		*+/-Cholesterol clefts.

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

	DDx:		DDx:

2017-06-12T15:45:45Z

General

← Older revision		Revision as of 15:45, 12 June 2017
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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==