A register of individuals with inborn errors of lipoprotein metabolism and their families.
One hundred and fifty-five hyperlipidaemic families resident in the Christchurch and Dunedin areas were included on a computerised register with built in confidentiality safeguards. Investigation of the relatives of the 155 probands identified 519 with normal lipids and a further 381 with hyperlipidaemia. The presence of 536 hyperlipidaemic individuals in the population of the two areas indicates a frequency of at least 0.12% which extrapolates to approximately 3800 cases of familial hyperlipidaemia nationwide. Our findings suggest that less than half of these are likely to have been detected. The most common condition was the mendelian dominant disorder familial hypercholesterolaemia found in 108 families. The register has been used to facilitate detection of further cases of familial hyperlipidaemias and appropriate counseling as well as for detecting and reassuring normal relatives. It also facilitates the long term study of the treatment of the affected individuals.
D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000097:blood; D006938:Hyperlipoproteinemia Type II / Q000097:blood; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008074:Lipoproteins / Q000378:metabolism*; D008499:Medical Records; D012042:Registries
D008074:Lipoproteins