A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency

Cecilia Vitali, Archna Bajaj, Christina Nguyen, Jill Schnall, Jinbo Chen, Kostas Stylianou, Daniel J Rader, Marina Cuchel, Cecilia Vitali, Archna Bajaj, Christina Nguyen, Jill Schnall, Jinbo Chen, Kostas Stylianou, Daniel J Rader, Marina Cuchel

Abstract

Syndromes associated with LCAT deficiency, a rare autosomal recessive condition, include fish-eye disease (FED) and familial LCAT deficiency (FLD). FLD is more severe and characterized by early and progressive chronic kidney disease (CKD). No treatment is currently available for FLD, but novel therapeutics are under development. Furthermore, although biomarkers of LCAT deficiency have been identified, their suitability to monitor disease progression and therapeutic efficacy is unclear, as little data exist on the rate of progression of renal disease. Here, we systematically review observational studies of FLD, FED, and heterozygous subjects, which summarize available evidence on the natural history and biomarkers of LCAT deficiency, in order to guide the development of novel therapeutics. We identified 146 FLD and 53 FED patients from 219 publications, showing that both syndromes are characterized by early corneal opacity and markedly reduced HDL-C levels. Proteinuria/hematuria were the first signs of renal impairment in FLD, followed by rapid decline of renal function. Furthermore, LCAT activity toward endogenous substrates and the percentage of circulating esterified cholesterol (EC%) were the best discriminators between these two syndromes. In FLD, higher levels of total, non-HDL, and unesterified cholesterol were associated with severe CKD. We reveal a nonlinear association between LCAT activity and EC% levels, in which subnormal levels of LCAT activity were associated with normal EC%. This review provides the first step toward the identification of disease biomarkers to be used in clinical trials and suggests that restoring LCAT activity to subnormal levels may be sufficient to prevent renal disease progression.

Keywords: HDL; chronic kidney disease; esterified cholesterol; familial LCAT deficiency; fish-eye disease; human data; lecithin:cholesterol acyltransferase; nephrotic syndrome; proteinuria/hematuria; systematic review.

Conflict of interest statement

Conflict of interest The authors declare that they have no conflicts of interest with the contents of this article.

Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.

Figures

Fig. 1
Fig. 1
Flowchart of record screening and selection. The flowchart has been compiled according to the guidelines of the PRISMA statement (11). A list of eligible publications and their characteristics is presented in supplemental Table S1.
Fig. 2
Fig. 2
Association of LCAT activity on endogenous or exogenous substrates with EC%. A and B: Scatter plot representation of the association between LCAT activity toward endogenous lipoproteins (A) or exogenous substrates (B) and EC%. For both activity measures, levels are expressed as percent of the mean control value from the same study. Dashed lines indicate the limits of reference range values for EC% in nonaffected subjects. Solid line indicates the mean value of the reference range (70%). C and D: Linear regression analysis of the LCAT activity toward endogenous lipoproteins (C) or exogenous substrates (D) and EC%. Activity levels (percent of control) were root-squared transformed, and EC% levels were logit transformed prior to analysis. Dashed lines indicate 95% prediction limits, solid line indicates regression line, and area highlighted in gray represents 95% confidence limits. For all panels, single points represent values from a single subject, and color code reflects their classification based on clinical/genetic characteristics. Regression parameters were as follows: (C) number of subjects = 200, estimate equation: y = 0.3365 × −2.3594, R2 = 0.7616 (D) number of subjects = 214, estimate equation: y = 0.3729 × −2.2059, R2 = 0.6092.

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