Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Jul 13;20(1):70.
doi: 10.1186/s12944-021-01498-6.

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred

Roopa Mehta  1 , Daniel Elías-López  1 , Alexandro J Martagón  1   2 , Oscar A Pérez-Méndez  3 , Maria Luisa Ordóñez Sánchez  4 , Yayoi Segura  4 , Maria Teresa Tusié  4 , Carlos A Aguilar-Salinas  5   6
Affiliations

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred

Roopa Mehta et al. Lipids Health Dis. .

Abstract

Background: LCAT (lecithin-cholesterol acyltransferase) deficiency is characterized by two distinct phenotypes, familial LCAT deficiency (FLD) and Fish Eye disease (FED). This is the first systematic review evaluating the ethnic distribution of LCAT deficiency, with particular emphasis on Latin America and the discussion of three Mexican-Mestizo probands.

Methods: A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic review and Meta-Analysis) Statement in Pubmed and SciELO. Articles which described subjects with LCAT deficiency syndromes and an assessment of the ethnic group to which the subject pertained, were included.

Results: The systematic review revealed 215 cases (154 FLD, 41 FED and 20 unclassified) pertaining to 33 ethnic/racial groups. There was no association between genetic alteration and ethnicity. The mean age of diagnosis was 42 ± 16.5 years, with fish eye disease identified later than familial LCAT deficiency (55 ± 13.8 vs. 41 ± 14.7 years respectively). The prevalence of premature coronary heart disease was significantly greater in FED vs. FLD. In Latin America, 48 cases of LCAT deficiency have been published from six countries (Argentina (1 unclassified), Brazil (38 FLD), Chile (1 FLD), Columbia (1 FLD), Ecuador (1 FLD) and Mexico (4 FLD, 1 FED and 1 unclassified). Of the Mexican probands, one showed a novel LCAT mutation.

Conclusions: The systematic review shows that LCAT deficiency syndromes are clinically and genetically heterogeneous. No association was confirmed between ethnicity and LCAT mutation. There was a significantly greater risk of premature coronary artery disease in fish eye disease compared to familial LCAT deficiency. In FLD, the emphasis should be in preventing both cardiovascular disease and the progression of renal disease, while in FED, cardiovascular risk management should be the priority. The LCAT mutations discussed in this article are the only ones reported in the Mexican- Amerindian population.

Keywords: Cardiovascular risk; Coronary artery disease; Ethnicity; HDL cholesterol; LCAT deficiency; Renal disease.

PubMed Disclaimer

Conflict of interest statement

authors do not have any conflicts of interest to disclose in relation to this manuscript.

Figures

Fig. 1
Fig. 1
Systematic review
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Rousset X, Shamburek R, Vaisman B, Amar M, Remaley AT. Lecithin cholesterol acyltransferase? An anti or pro atherogenic factor? Current Atheroscler Rep. 2011;13:249–56. doi: 10.1007/s11883-011-0171-6. - DOI - PMC - PubMed
    1. Savel J, Lafitte M, Pucheu Y, Pradeau V, Tabarin A, Couffinhal T. Very low levels of HDL cholesterol and atherosclerosis, a variable relationship – a review of LCAT deficiency. Vasc Health Risk Manag. 2012;8:357–61. - PMC - PubMed
    1. Razavi AE, Ani M, Pourfarzam M, Naderi GA. Associations between high density lipoprotein mean particle size and serum paraoxonase-1 activity. J Res Med Sci. 2012 Nov;17(11):1020–6. - PMC - PubMed
    1. Santamarina-Fojo S, Lambert G, Hoeg JM. and H.B. Jr. Brewer. 2000. Lecithin-cholesterol acyltransferase: role in lipoprotein metabolism, reverse cholesterol transport and atherosclerosis. Curr Opin Lipidol. 11:267–275. - PubMed
    1. Peelman F, Vandekerckhove J, Rosseneu M. Structure and function of lecithin cholesterol acyl transferase: new insights from structural predictions and animal models. Curr Opin Lipidol. 2000;11:155–60. doi: 10.1097/00041433-200004000-00008. - DOI - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources