title: Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy.
abstract: 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 1.5g nocte and fenofibrate M/R 160mg 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 6.61mmol/L; HDL cholesterol 0.57mmol/L; Lp(X) cholesterol 3.24mmol/L; triglyceride 4.13mmol/L; apolipoprotein A1 46mg/dL; and apolipoprotein B 53mg/dL. After six weeks of treatment his total cholesterol was 4.16; HDL cholesterol 0.52; Lp(X) cholesterol 1.73mmol/L; triglyceride 1.80mmol/L; apolipoprotein A1 36mg/dL; and apolipoprotein B 50mg/dL. Baseline serum creatinine was 106micromol/L and urine albumin/creatinine ratio was 127.3mg/mmol and after 12 months was 101micromol/L and 31.5mg/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.
authors.affiliation: Imperial College London, St Mary's Hospital, London, UK. m.yee@imperial.ac.uk
authors.forename: Michael S
authors.initials: MS
authors.lastname: Yee
authors.forename: Darrell V
authors.initials: DV
authors.lastname: Pavitt
authors.forename: William
authors.initials: W
authors.lastname: Richmond
authors.forename: H Terence
authors.initials: HT
authors.lastname: Cook
authors.forename: Adam G
authors.initials: AG
authors.lastname: McLean
authors.forename: Jonathan
authors.initials: J
authors.lastname: Valabhji
authors.forename: Robert S
authors.initials: RS
authors.lastname: Elkeles
mesh_terms: D000328:Adult; D000418:Albumins / Q000032:analysis*; D002118:Calcium / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D003331:Coronary Vessels / Q000473:pathology; D011345:Fenofibrate / Q000494:pharmacology; D006801:Humans; D000960:Hypolipidemic Agents / Q000627:therapeutic use; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000097:blood* / Q000235:genetics* / Q000652:urine*; D008073:Lipoprotein-X / Q000378:metabolism; D008074:Lipoproteins / Q000097:blood*; D008297:Male; D009525:Niacin / Q000494:pharmacology; D014057:Tomography, X-Ray Computed / Q000379:methods; D014280:Triglycerides / Q000378:metabolism
chemical_list: D000418:Albumins; D000960:Hypolipidemic Agents; D008073:Lipoprotein-X; D008074:Lipoproteins; D014280:Triglycerides; D009525:Niacin; D002784:Cholesterol; D002118:Calcium; D011345:Fenofibrate