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 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.
Highlights
Transplantation, but the disease can rapidly reoccur in the transplanted kidney within only a few years, as shown in a single reported anecdotal case [7]
Homozygous and compound heterozygous Familial LCAT deficiency (FLD) patients present corneal opacification, hemolytic anemia, and renal disease, which represents the primary cause of morbidity and mortality [3]
Clinical manifestations of FLD include corneal opacification, which represents a hallmark of the disease but is rarely associated with visual impairment, hemolytic anemia, and renal insufficiency
Summary
Transplantation, but the disease can rapidly reoccur in the transplanted kidney within only a few years, as shown in a single reported anecdotal case [7]. Chronic kidney disease (CKD) etiopathogenesis is not completely understood, lipoprotein X (LpX), an abnormal lipoprotein enriched in unesterified cholesterol and relatively poor in other lipids and apolipoproteins, is involved in causing renal damage [8]. Homozygous and compound heterozygous FLD patients present corneal opacification, hemolytic anemia, and renal disease, which represents the primary cause of morbidity and mortality [3]. Proteinuria can develop as early as in the second decade of life [4], and it unpredictably progresses to renal insufficiency and eventually to kidney failure [5, 6].
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