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. We show that renal failure occurs at the median age of 46 years, with a median time to a second recurrence of 10 years. Additionally, we identify high plasma unesterified cholesterol level as a predicting factor for rapid deterioration of kidney function. In conclusion, this study highlights the severe consequences of FLD, underlines the need of correct early diagnosis and referral of patients to specialized centres, and highlights the urgency for effective treatments to prevent or slow renal disease in patients with LCAT deficiency.

Progression of chronic kidney disease in Familial LCAT Deficiency: a follow-up of the Italian cohort / C. Pavanello, A. Ossoli, M. Arca, L. D'Erasmo, G. Boscutti, L. Gesualdo, T. Lucchi, T. Sampietro, F. Veglia, L. Calabresi. - In: JOURNAL OF LIPID RESEARCH. - ISSN 0022-2275. - 61:12(2020), pp. jlr.P120000976.1784-jlr.P120000976.1788. [10.1194/jlr.P120000976]

Progression of chronic kidney disease in Familial LCAT Deficiency: a follow-up of the Italian cohort

C. Pavanello
Primo
;
A. Ossoli
Secondo
;
F. Veglia
Penultimo
;
L. Calabresi
Ultimo
2020

Abstract

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. We show that renal failure occurs at the median age of 46 years, with a median time to a second recurrence of 10 years. Additionally, we identify high plasma unesterified cholesterol level as a predicting factor for rapid deterioration of kidney function. In conclusion, this study highlights the severe consequences of FLD, underlines the need of correct early diagnosis and referral of patients to specialized centres, and highlights the urgency for effective treatments to prevent or slow renal disease in patients with LCAT deficiency.
Cholesterol/Metabolism; HDL; Lecithin cholesterol acyltransferase; Lipoproteins; Renal disease; familial LCAT deficiency; kidney transplantation
Settore BIO/14 - Farmacologia
   LCAT deficiency, a rare inherited disorder associated with rapidly progressive kidney disease: genetic and phenotypic heterogeneity, pathogenesis of renal damage and therapeutic developments
   FONDAZIONE CARIPLO
   2011-0628
2020
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/771422
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