Low-density lipoprotein apheresis in a patient aged 3.5 years

A 3.5 y-old girl carrying a severe mutation of the LDL-receptor gene known as "FH Pavia", affected by homozygous familial hypercholesterolaemia (FH), and at high risk of developing coronary artery atherosclerosis was treated with selective dextran sulphate cellulose (DSC) column low-density lipoprot ein apheresis (LDL-a). This is the youngest patient ever treated with LDL-a . Plasma total cholesterol (982 mg/dl) and LDL-cholesterol (939 mg/dl) (T-C hol, LDL-Chol) levels at baseline showed a transient decrease: -13.4%, and -16.8%. respectively, after 9 mo of combined treatment with a diet, cholest yramine (max. 12 g/d) and atorvastatin (max. 30 mg/d). However, the drugs w ere discontinued because of intolerance and an increase in aminotransferase s and creatine phosphokinase in the plasma. Moreover, after 9 mo of this th erapy, the mean plasma T-Chol and LDL-Chol levels were still high (930 mg/d l and 869.5 mg/dl, respectively). Therefore, 9 consecutive treatments with LDL-a were carried out every 15 d (plasma volumes treated: 1000-1700 mi). M ean plasma T-Chol, LDL-Chol. triglycerides (TG), and Lp(a) decreased signif icantly: -75.59%, -77.2%, -67.5% and -50.8%, respectively. HDL-cholesterol (HDL-Chol) concentration was considerably decreased immediately after apher esis because of haemodilution (X: -45.1%) Conclusion: LDL-a treatment improved the plasma apo B 100-containing lipopr oteins-LDL, Lp(a)-profile in a homozygote with a severe inherited disorder in which coronary artery atherosclerosis frequently has its clinical onset before 10 y of age. At the time of this report, no significant side effects had been observed.