Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy

Familial lecithin: cholesterol acyltransferase deficiency (FLD) is a monogenic autosomal recessive condition, affecting cholesterol esterification and leads to progressive renal impairment and end-stage renal failure, probably due to the abnormal lipoprotein (X) (Lp(X)). We report a case of FLD, whom we treated with a combination of nicotinic acid 1.5 g nocte and fenofibrate M/R 160 mg od and report changes in lipid profile and Lp(X), after six weeks and serum creatinine and urine albumin/creatinine ratio after 12 months. We assessed the cardiovascular risk using electron beam computed tomography. At baseline total cholesterol was 6.61 mmol/L; HDL cholesterol 0.57 mmol/L; Lp(X) cholesterol 3.24 mmol/L; triglyceride 4.13 mmol/L; apolipoprotein A1 46 mg/dL; and apolipoprotein B 53 mg/dL After six weeks of treatment his total cholesterol was 4.16: HDL cholesterol 0.52; Lp(X) cholesterol 1.73 mmol/L; triglyceride 1.80 mmol/L; apolipoprotein A1 36 mg/dL; and apolipoprotein B 50 mg/dL Baseline serum creatinine was 106 mu mol/L and urine albumin/creatinine ratio was 127.3 mg/mmol and after 12 months was 101 mu mol/L and 31.5 mg/mmol respectively. His coronary artery calcification score was zero. We have shown, we believe for the first time, that combination lipid modifying therapy in FLD leads to a reduction in Lp(X) concentration and an associated reduction in urine albumin excretion at 12 months. (c) 2009 Elsevier Ireland Ltd. All rights reserved.