Familial LCAT (Lecithin: Cholesterol Acyltransferase) Deficiency: A Case Report

Familial LCAT deficiency (FLD) is a rare genetic disorder for which there is currentlyno treatment. It is marked by extremely reduced HDL-C levels since birth. Corneal opacity is often the first clinical sign of disease and progressive chronic kidney disease develops by the fourth decade of life. While the biochemical aspects of FLD are well understood, little is known about its natural history, hampering the identification of biomarkers which could aid the timely diagnosis of the disease and the development of effective treatments.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Tags: Genetic Disorders Source Type: research