Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency

A 37-year-old man of northern European descent withfamilial lecithin:cholesterol acyltransferase (LCAT)deficiency started peritoneal dialysis (PD) one yearago, for end-stage renal failure.Proteinuria and an abnormal lipid profile were firstnoted in his early 20s. At the age of 29, he suffered analkali burn to his right eye. When assessed by anophthalmologist, diffuse lipid deposition in the corneaswith accentuated arcus and preservation of his visualacuity were noted. At the age of 30 (in 1999), thefollowing clinical findings were observed at nephrologyand lipid specialist appointments: blood pressure140/80, weight 112kg (BMI 33), and marked arcuscornealis bilaterally. He was anaemic (haemoglobin11.4g/dl), but had preserved renal function. Urinalysisrevealed proteinuria and microhaematuria. A 24-hurine collection showed nephrotic range proteinuria at6g/day. His total cholesterol (TC) was 270mg/dl(6.99mmol/l), triglycerides (TG) 946mg/dl(10.68mmol/l) and HDL-C 15mg/dl (0.38mmol/l).Familial LCAT deficiency (FLD) was confirmed byLCAT assay. Interestingly, he was found to be acompound heterozygote for two novel missense muta-tions in the LCAT gene, namely V28M in Exon 1 andA211T in Exon 5. The patient’s older brother hadreceived a renal transplant many years previously,experienced graft failure and died in his 40s. Of the twoyounger brothers, one had proteinuria and the otherrefused testing.Our patient was evaluated 5 years later (August2004) because of severe hypertension (180/100mmHg)and renal failure with serum creatinine 6.7mg/dl(593