Familial hyperlipidaemia in Malaysian children

This paper highlights two cases of paediatric familial hyperlipidaemia (hypercholesterolaemia and hypertriglyceridaemia). The first case was an 11 year old Chinese boy, a "homozygous" (Type II) hypercholesterolaemic patient. He had extremely high blood cholesterol level (19.4 mmol/l), severe multiple xanthoma and abnormal resting electrocardiogram. He had repeated heart attacks and died at the age of 15 in spite of early intervention, treatment and follow up. The second case was a 2 1/2 years old girl who had severe hypertriglyceridaemia. She had raised cholesterol (6.2 mmol/l) and extremely high triglycerides (14.8 mmol/l). The patient did not resemble Type I lipoproteinaemia which is classically seen in childhood. On the contrary, the patient exhibited clinical and biochemical manifestations of a Type V lipoproteinaemia which often occurs in adults. Apart from a Type V lipoprotein pattern, the patient had low post hepatic lipase activity (PHLA), Apo C II and Apo E2/E3 phenotype. In addition, the lipid profile of her family members (both the parents and brothers) had raised triglycerides and thus ruled out the Type I lipoprotein inheritance pattern, which is an autosomal recessive condition. The issue of paediatric hyperlipidaemia, their management and treatments are discussed.