Key result
Familial LCAT deficiency is a rare metabolic disorder characterized by low HDL cholesterol, corneal opacification, anemia, and renal disease, with no current cure.
Why the study?
Genetic LCAT deficiency is a rare metabolic disorder with heterogeneous manifestations and open questions regarding the cause of renal damage and cardiovascular risk.
This review highlights the clinical heterogeneity of familial LCAT deficiency and the need for disease biomarkers to predict clinical evolution and guide future therapies.
Answers are grounded in this paper and cite their sources.
No cure for heterogeneous familial LCAT deficiency; leaves open biomarker development to predict progression and guide 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.
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Pavanello et al. (2020) conducted a review in Genetic LCAT deficiency. Familial LCAT deficiency is a rare metabolic disorder characterized by low HDL cholesterol, corneal opacification, anemia, and renal disease, with no current cure.
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