Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA (Mr Alfaro, Drs Vitali and Cuchel).
Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA (Mr Pendyala and Dr Sulewski).
J Clin Lipidol. 2024 Jul-Aug;18(4):e636-e643. doi: 10.1016/j.jacl.2024.03.002. Epub 2024 Mar 13.
Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is an ultra-rare autosomal recessive disease characterized by very low high-density lipoprotein cholesterol (HDL-C) levels, corneal opacity, anemia, and progressive renal disease. The rate and severity of renal disease are variable across FLD patients and the biomarkers and risk factors for disease progression are poorly understood. Here we report a 30 year-long comparative analysis of the clinical and laboratory biomarkers in an FLD patient with accelerated renal decline, who underwent two kidney and one liver transplantations. Results show that elevated triglyceride and non-HDL-C levels may promote the formation of LpX and accelerate renal function decline, whereas markers of anemia may be early predictors. Conversely, corneal opacity progresses at a steady rate and does not correlate with lipid, hematologic, or renal biomarkers. Our study suggests that monitoring of markers of anemia may aid the early detection and timely management of kidney disease with conservative therapies. Furthermore, it suggests that controlling hypercholesterolemia and hypertriglyceridemia may help improve renal disease prognosis.
家族性卵磷脂胆固醇酰基转移酶 (LCAT) 缺乏症 (FLD) 是一种极为罕见的常染色体隐性遗传病，其特征是高密度脂蛋白胆固醇 (HDL-C) 水平极低、角膜混浊、贫血和进行性肾病。FLD 患者的肾病发生率和严重程度存在差异，且疾病进展的生物标志物和风险因素知之甚少。本研究报告了一名进行了两次肾脏和一次肝脏移植的 FLD 患者加速肾脏衰退的长达 30 年的临床和实验室生物标志物的对比分析。结果表明，甘油三酯和非高密度脂蛋白胆固醇水平升高可能会促进 LpX 的形成并加速肾功能下降，而贫血标志物可能是早期预测指标。相反，角膜混浊以稳定的速度进展，与脂质、血液学或肾脏生物标志物无关。本研究表明，监测贫血标志物可能有助于通过保守治疗早期发现和及时管理肾脏疾病。此外，它表明控制高胆固醇血症和高甘油三酯血症可能有助于改善肾脏疾病的预后。
