Abstract
BackgroundLCAT (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.MethodsA 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.ResultsThe 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.ConclusionsThe 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.
Highlights
Lecithin cholesterol acyltransferase (LCAT) is a 67 kDa protein, predominantly expressed in the liver [1]
It catalyzes the transfer of an unsaturated fatty acid from lecithin to free cholesterol, producing lysolecithin and cholesteryl ester. This reaction occurs on immature high density lipoproteins (HDL) particles in the presence of apolipoprotein Apolipoprotein A-I (A-I), and corresponds to the alpha activity of the LCAT enzyme
When this reaction occurs on low density lipoproteins (LDL) or very low density lipoproteins (VLDL) it is referred to as the beta activity
Summary
Lecithin cholesterol acyltransferase (LCAT) is a 67 kDa protein, predominantly expressed in the liver [1]. It circulates in plasma bound to high density lipoproteins (HDL) but can be found on apolipoprotein B100 containing particles [2,3,4] It catalyzes the transfer of an unsaturated fatty acid from lecithin to free cholesterol, producing lysolecithin and cholesteryl ester. This reaction occurs on immature HDL particles in the presence of apolipoprotein A-I (apo A-I), and corresponds to the alpha activity of the LCAT enzyme. The esterification of cholesterol on HDL increases the concentration gradient for free cholesterol between cell membranes and HDL, promoting the removal of cholesterol from cells [1, 2] Another HDL associated serum enzyme is paraoxonase 1 (PON1), this may play a role in the protection of LDL particles from oxidative stress. This is the first systematic review evaluating the ethnic distribution of LCAT deficiency, with particular emphasis on Latin America and the discussion of three MexicanMestizo probands
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
