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.

Genomewide scan for familial combined hyperlipidemia genes in finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels.

Familial combined hyperlipidemia (FCHL) is a common dyslipidemia predisposing to premature coronary heart disease (CHD). The disease is characterized by increased levels of serum total cholesterol (TC), triglycerides (TGs), or both. We recently localized the first locus for FCHL, on chromosome 1q21-q23. In the present study, a genomewide screen for additional FCHL loci was performed. In stage 1, we genotyped 368 polymorphic markers in 35 carefully characterized Finnish FCHL families. We identified six chromosomal regions with markers showing LOD score (Z) values >1.0, by using a dominant mode of inheritance for the FCHL trait. In addition, two more regions emerged showing Z>2.0 with a TG trait. In stage 2, we genotyped 26 more markers and seven additional FCHL families for these interesting regions. Two chromosomal regions revealed Z>2.0 in the linkage analysis: 10p11.2, Z=3.20 (theta=.00), with the TG trait; and 21q21, Z=2.24 (theta=.10), with the apoB trait. Furthermore, two more chromosomal regions produced Z>2.0 in the affected-sib-pair analysis: 10q11.2-10qter produced Z=2.59 with the TC trait and Z=2.29 with FCHL, and 2q31 produced Z=2.25 with the TG trait. Our results suggest additional putative loci influencing FCHL in Finnish families, some potentially affecting TG levels and some potentially affecting TC or apoB levels.