Article
Novel therapeutic opportunities for familial lecithin:cholesterol acyltransferase deficiency: promises and challenges.
Current opinion in lipidology - 1 Apr 2023
Vitali Cecilia, Rader Daniel J, Cuchel Marina
Abstract excerpt
PURPOSE OF REVIEW: Genetic lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare, inherited, recessive disease, which manifests as two different syndromes: Familial LCAT deficiency (FLD) and Fish-eye disease (FED), characterized by low HDL-C and corneal opacity. FLD patients also develop anaemia and renal disease. There is currently no therapy for FLD, but novel therapeutics are at different stages of...
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