Longitudinal analysis of clinical and laboratory biomarkers in a patient with Familial Lecithin: Cholesterol acyltransferase deficiency (FLD) and accelerated eGFR decline: a case study.
Familial LCAT Deficiency (FLD) is an ultra-rare autosomal recessive disorder caused by complete loss of function variants in the gene encoding for lecithin:cholesterol acyltransferase (LCAT).1FLD is characterized by very low HDL-Cholesterol (HDL-C) levels, often reduced LDL-Cholesterol (LDL-C) levels, elevated and variable triglycerides (TG), and the presence of abnormal lipoproteins such as lipoprotein X (LpX), which is believed to be nephrotoxic.1 Despite having significantly reduced HDL-C levels, FLD patients are not higher risk of atherosclerotic cardiovascular disease.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Gregory Alfaro, Jay Pendyala, Michael Sulewski, Michael Miller, Cecilia Vitali, Marina Cuchel Tags: Case Study Source Type: research
More News: Cardiology | Cardiovascular | Cholesterol | Genetics | Heart | Laboratory Medicine | Lecithin | Lipidology | Study