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

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.

SUBMITTER: Vitali C 

PROVIDER: S-EPMC8953693 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature