A young male with familial hypercholesterolemia

A nine-year-old Bangladeshi male with a body mass index 16.5 kg/m(2) presented with progressive tuberous xanthomata on both auricles, elbows, gluteal regions and legs since birth. His father, paternal and maternal grandfather had xanthelasma, however, the siblings had none. Examination of the cardiovascular system was otherwise normal. Laboratory investigations were performed on several occasions since he was 4 years of age and revealed extreme dyslipidaemia with very high total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), triglycerides (TG), apolipoprotein B (Apo-B) and lipoprotein(a), and low apolipoprotein-A (Apo-A) levels. Repeated combination of lipid lowering agents with cholestyramine, atorvastatin and ezetimibe were virtually ineffective in improving the lipid profiles. Supplementation therapy with niacin also had no effect. In view of the unavailability in Bangladesh of lipid apheresis, the cornerstone of therapy, the management of the case becomes complicated.