Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.

Abstract:

PURPOSE OF REVIEW:Genetic LCAT deficiency is a rare metabolic disorder characterized by low-plasma HDL cholesterol levels. Clinical manifestations of the disease include corneal opacification, anemia, and renal disease, which represents the major cause of morbidity and mortality in carriers. RECENT FINDINGS:Biochemical and clinical manifestations of the disease are very heterogeneous among carriers. The collection of large series of affected individuals is needed to answer various open questions on this rare disorder of lipid metabolism, such as the cause of renal damage in patients with complete LCAT deficiency and the cardiovascular risk in carriers of different LCAT gene mutations. SUMMARY:Familial LCAT deficiency is a rare disease, with serious clinical manifestations, which can occur in the first decades of life, and presently with no cure. The timely diagnosis in carriers, together with the identification of disease biomarkers able to predict the evolution of clinical manifestations, would be of great help in the identification of carriers to address to future available therapies.

journal_name

Curr Opin Lipidol

authors

Pavanello C,Calabresi L

doi

10.1097/MOL.0000000000000697

subject

Has Abstract

pub_date

2020-08-01 00:00:00

pages

232-237

issue

4

eissn

0957-9672

issn

1473-6535

journal_volume

31

pub_type

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