Chiara Pavanello1, Laura Calabresi. 1. Centro Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy.
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.
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.
Authors: Eline H van den Berg; Jose L Flores-Guerrero; Eke G Gruppen; Erwin Garcia; Margery A Connelly; Vincent E de Meijer; Stephan J L Bakker; Hans Blokzijl; Robin P F Dullaart Journal: J Clin Med Date: 2022-02-24 Impact factor: 4.241
Authors: Rafael Melo Santos de Serpa Brandão; Fábio Barros Britto; José Tiburcio do Monte Neto; Marcelo Cunha Lima; Semiramis Jamil Hadad do Monte; Antonio Vanildo de Sousa Lima; Ester Miranda Pereira; Higo José Neri da Silva; Deylane Menezes Teles E Oliveira; Antonio Gilberto Borges Coelho; Adalberto Socorro da Silva Journal: Mol Genet Metab Rep Date: 2022-01-03
Authors: Roopa Mehta; Daniel Elías-López; Alexandro J Martagón; Oscar A Pérez-Méndez; Maria Luisa Ordóñez Sánchez; Yayoi Segura; Maria Teresa Tusié; Carlos A Aguilar-Salinas Journal: Lipids Health Dis Date: 2021-07-13 Impact factor: 3.876