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

disease; familial lcat deficiency; genetic mutation; lipids; peritoneal dialysis Case A 37-year-old man of northern European descent with familial lecithin:cholesterol acyltransferase (LCAT) deficiency started peritoneal dialysis (PD) one year ago, for end-stage renal failure. Proteinuria and an abnormal lipid profile were first noted in his early 20s. At the age of 29, he suffered an alkali burn to his right eye. When assessed by an ophthalmologist, diffuse lipid deposition in the corneas with accentuated arcus and preservation of his visual acuity were noted. At the age of 30 (in 1999), the following clinical findings were observed at nephrology and lipid specialist appointments: blood pressure 140/80, weight 112 kg (BMI 33), and marked arcus cornealis bilaterally. He was anaemic (haemoglobin 11.4g/dl), but had preserved renal function. Urinalysis revealed proteinuria and microhaematuria. A 24-h urine collection showed nephrotic range proteinuria at 6 g/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 by LCAT assay. Interestingly, he was found to be a compound heterozygote for two novel missense muta-tions in the LCAT gene, namely V28M in Exon 1 and A211T in Exon 5. The patient’s older brother had received a renal transplant many years previously, experienced graft failure and died in his 40s. Of the two younger brothers, one had proteinuria and the other refused testing. Our patient was evaluated 5 years later (August 2004) because of severe hypertension (180/100mmHg) and renal failure with serum creatinine 6.7mg/dl (593mmol/l). He was a heavy smoker and a hetero-zygous carrier for Factor V Leiden. His physical examination was essentially unremarkable, apart from striking opacification of his corneas (Figure 1)