Familial LCAT deficiency (FLD) is a rare genetic disorder of HDL metabolism, caused by loss-of-function mutations in the LCAT gene and characterized by a variety of symptoms including corneal opacities and kidney failure. Renal disease represents the leading cause of morbidity and mortality in FLD cases. However, the prognosis is not known and the rate of deterioration of kidney function is variable and unpredictable from patient-to-patient. In this paper, we present data from a follow-up of the large Italian cohort of FLD patients, who have been followed for an average of 12 years.
Pavanello C, Ossoli A, Arca M, D'Erasmo L, Boscutti G, Gesualdo L, Lucchi T, Sampietro T, Veglia F, Calabresi L. Progression of chronic kidney disease in Familial LCAT Deficiency: a follow-up of the Italian cohort. J Lipid Res 2020 Sep 30;jlr.P120000976. doi: 10.1194/jlr.P120000976.