Progression of chronic kidney disease in familial LCAT deficiency: A follow-up of the Italian cohort

Chiara Pavanello, Alice Ossoli, Marcello Arca, Laura D'Erasmo, Giuliano Boscutti, Loreto Gesualdo, Tiziano Lucchi, Tiziana Sampietro, Fabrizio Veglia, Laura Calabresi

Research output: Contribution to journalArticlepeer-review


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 article, 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 centers, and highlights the urgency for effective treatments to prevent or slow renal disease in patients with LCAT deficiency.

Original languageEnglish
Pages (from-to)1784-1788
Number of pages5
JournalJournal of Lipid Research
Issue number12
Publication statusPublished - Dec 2020


  • Cholesterol/metabolism
  • Familial lecithin:cholesterol acyltransferase deficiency
  • High density lipoprotein
  • Kidney transplantation
  • Lecithin:cholesterol acyltransferase
  • Lipoproteins
  • Renal disease

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology
  • Cell Biology


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