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LCAT deficiency

MedGen UID:
1830326
•Concept ID:
C5779633
•
Disease or Syndrome
Synonyms: Lecithin Acyltransferase Deficiency; Lecithin Cholesterol Acyltransferase Deficiency
SNOMED CT: Lecithin cholesterol acyltransferase deficiency (238091006); LCAT (lecithin-cholesterol acyltransferase) deficiency (238091006); LCAT deficiency (238091006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related gene: LCAT
 
Monarch Initiative: MONDO:0018999
Orphanet: ORPHA650

Definition

Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. [from OMIM]

Professional guidelines

PubMed

Very low HDL levels: clinical assessment and management.
Bonilha I, Luchiari B, Nadruz W, Sposito AC
Arch Endocrinol Metab 2023 Jan 18;67(1):3-18. doi: 10.20945/2359-3997000000585. PMID: 36651718Free PMC Article
Plasma lipoprotein-X quantification on filipin-stained gels: monitoring recombinant LCAT treatment ex vivo.
Freeman LA, Shamburek RD, Sampson ML, Neufeld EB, Sato M, Karathanasis SK, Remaley AT
J Lipid Res 2019 May;60(5):1050-1057. Epub 2019 Feb 26 doi: 10.1194/jlr.D090233. PMID: 30808683Free PMC Article
Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement.
Shamburek RD, Bakker-Arkema R, Auerbach BJ, Krause BR, Homan R, Amar MJ, Freeman LA, Remaley AT
J Clin Lipidol 2016 Mar-Apr;10(2):356-67. Epub 2015 Dec 23 doi: 10.1016/j.jacl.2015.12.007. PMID: 27055967Free PMC Article

Recent clinical studies

Etiology

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.
Mehta R, Elías-López D, Martagón AJ, Pérez-Méndez OA, Sánchez MLO, Segura Y, Tusié MT, Aguilar-Salinas CA
Lipids Health Dis 2021 Jul 13;20(1):70. doi: 10.1186/s12944-021-01498-6. PMID: 34256778Free PMC Article
Current Status of Familial LCAT Deficiency in Japan.
Kuroda M, Bujo H, Yokote K, Murano T, Yamaguchi T, Ogura M, Ikewaki K, Koseki M, Takeuchi Y, Nakatsuka A, Hori M, Matsuki K, Miida T, Yokoyama S, Wada J, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):679-691. Epub 2021 Apr 18 doi: 10.5551/jat.RV17051. PMID: 33867422Free PMC Article
Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.
Pavanello C, Calabresi L
Curr Opin Lipidol 2020 Aug;31(4):232-237. doi: 10.1097/MOL.0000000000000697. PMID: 32618730
Role of LCAT in Atherosclerosis.
Ossoli A, Simonelli S, Vitali C, Franceschini G, Calabresi L
J Atheroscler Thromb 2016;23(2):119-27. Epub 2015 Nov 26 doi: 10.5551/jat.32854. PMID: 26607351
Corneal and fundus changes in familial LCAT-deficiency.
Borven I, Egge K, Gjone E
Acta Ophthalmol (Copenh) 1974;52(2):201-10. doi: 10.1111/j.1755-3768.1974.tb00368.x. PMID: 4406932

Diagnosis

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.
Mehta R, Elías-López D, Martagón AJ, Pérez-Méndez OA, Sánchez MLO, Segura Y, Tusié MT, Aguilar-Salinas CA
Lipids Health Dis 2021 Jul 13;20(1):70. doi: 10.1186/s12944-021-01498-6. PMID: 34256778Free PMC Article
Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.
Pavanello C, Calabresi L
Curr Opin Lipidol 2020 Aug;31(4):232-237. doi: 10.1097/MOL.0000000000000697. PMID: 32618730
LCAT deficiency as a cause of proteinuria and corneal opacification.
Morales E, Alonso M, Sarmiento B, Morales M
BMJ Case Rep 2018 Mar 13;2018 doi: 10.1136/bcr-2017-224129. PMID: 29535099Free PMC Article
AJKD Atlas of Renal Pathology: Lecithin-Cholesterol Acyltransferase (LCAT) Deficiency.
Najafian B, Lusco MA, Finn LS, Alpers CE, Fogo AB
Am J Kidney Dis 2017 Jul;70(1):e5-e6. doi: 10.1053/j.ajkd.2017.05.003. PMID: 28646986
Lipoprotein-X.
Narayanan S
CRC Crit Rev Clin Lab Sci 1979 Aug;11(1):31-51. doi: 10.3109/10408367909105853. PMID: 389551

Therapy

Very low HDL levels: clinical assessment and management.
Bonilha I, Luchiari B, Nadruz W, Sposito AC
Arch Endocrinol Metab 2023 Jan 18;67(1):3-18. doi: 10.20945/2359-3997000000585. PMID: 36651718Free PMC Article
The HDL mimetic CER-001 remodels plasma lipoproteins and reduces kidney lipid deposits in inherited lecithin:cholesterol acyltransferase deficiency.
Pavanello C, Turri M, Strazzella A, Tulissi P, Pizzolitto S, De Maglio G, Nappi R, Calabresi L, Boscutti G
J Intern Med 2022 Mar;291(3):364-370. Epub 2021 Nov 11 doi: 10.1111/joim.13404. PMID: 34761839Free PMC Article
LCAT protects against Lipoprotein-X formation in a murine model of drug-induced intrahepatic cholestasis.
Amar MJA, Freeman LA, Nishida T, Sampson ML, Pryor M, Vaisman BL, Neufeld EB, Karathanasis SK, Remaley AT
Pharmacol Res Perspect 2020 Feb;8(1):e00554. Epub 2019 Dec 29 doi: 10.1002/prp2.554. PMID: 31893124Free PMC Article
Lecithin cholesterol acyltransferase: an anti- or pro-atherogenic factor?
Rousset X, Shamburek R, Vaisman B, Amar M, Remaley AT
Curr Atheroscler Rep 2011 Jun;13(3):249-56. doi: 10.1007/s11883-011-0171-6. PMID: 21331766Free PMC Article
Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy.
Yee MS, Pavitt DV, Richmond W, Cook HT, McLean AG, Valabhji J, Elkeles RS
Atherosclerosis 2009 Aug;205(2):528-32. Epub 2009 Jan 29 doi: 10.1016/j.atherosclerosis.2008.11.033. PMID: 19230892

Prognosis

Estrogen Induces LCAT to Maintain Cholesterol Homeostasis and Suppress Hepatocellular Carcinoma Development.
He W, Wang M, Zhang X, Wang Y, Zhao D, Li W, Lei F, Peng M, Zhang Z, Yuan Y, Huang Z
Cancer Res 2024 Aug 1;84(15):2417-2431. doi: 10.1158/0008-5472.CAN-23-3966. PMID: 38718297
High-Density Lipoproteins and the Kidney.
Strazzella A, Ossoli A, Calabresi L
Cells 2021 Mar 31;10(4) doi: 10.3390/cells10040764. PMID: 33807271Free PMC Article
Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.
Pavanello C, Calabresi L
Curr Opin Lipidol 2020 Aug;31(4):232-237. doi: 10.1097/MOL.0000000000000697. PMID: 32618730
Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency.
Hirashio S, Ueno T, Naito T, Masaki T
Clin Exp Nephrol 2014 Apr;18(2):189-93. Epub 2013 Oct 31 doi: 10.1007/s10157-013-0895-4. PMID: 24174160
Corneal and fundus changes in familial LCAT-deficiency.
Borven I, Egge K, Gjone E
Acta Ophthalmol (Copenh) 1974;52(2):201-10. doi: 10.1111/j.1755-3768.1974.tb00368.x. PMID: 4406932

Clinical prediction guides

Estrogen Induces LCAT to Maintain Cholesterol Homeostasis and Suppress Hepatocellular Carcinoma Development.
He W, Wang M, Zhang X, Wang Y, Zhao D, Li W, Lei F, Peng M, Zhang Z, Yuan Y, Huang Z
Cancer Res 2024 Aug 1;84(15):2417-2431. doi: 10.1158/0008-5472.CAN-23-3966. PMID: 38718297
Plasma FA composition in familial LCAT deficiency indicates SOAT2-derived cholesteryl ester formation in humans.
Pavanello C, Ossoli A, Strazzella A, Risè P, Veglia F, Lhomme M, Parini P, Calabresi L
J Lipid Res 2022 Jul;63(7):100232. Epub 2022 May 19 doi: 10.1016/j.jlr.2022.100232. PMID: 35598637Free PMC Article
High-Density Lipoproteins and the Kidney.
Strazzella A, Ossoli A, Calabresi L
Cells 2021 Mar 31;10(4) doi: 10.3390/cells10040764. PMID: 33807271Free PMC Article
Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.
Pavanello C, Calabresi L
Curr Opin Lipidol 2020 Aug;31(4):232-237. doi: 10.1097/MOL.0000000000000697. PMID: 32618730
Lipoprotein-X fifty years after its original discovery.
Fellin R, Manzato E
Nutr Metab Cardiovasc Dis 2019 Jan;29(1):4-8. Epub 2018 Sep 26 doi: 10.1016/j.numecd.2018.09.006. PMID: 30503707

Recent systematic reviews

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.
Vitali C, Bajaj A, Nguyen C, Schnall J, Chen J, Stylianou K, Rader DJ, Cuchel M
J Lipid Res 2022 Mar;63(3):100169. Epub 2022 Jan 20 doi: 10.1016/j.jlr.2022.100169. PMID: 35065092Free PMC Article
LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.
Mehta R, Elías-López D, Martagón AJ, Pérez-Méndez OA, Sánchez MLO, Segura Y, Tusié MT, Aguilar-Salinas CA
Lipids Health Dis 2021 Jul 13;20(1):70. doi: 10.1186/s12944-021-01498-6. PMID: 34256778Free PMC Article

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