[Attitude of patients toward detection of hereditary disease. Heterozygote familial hypercholesterolemia].

Molecular biology has enabled us to identify apparently healthy persons at high risk of genetic disease. The purpose of the present study was to examine attitudes to detection of disease and the present well-being in persons at risk of disease with a modifiable outcome-heterozygous Familial Hypercholesterolaemia (heFH). A questionnaire collecting information on impact on well-being and on attitudes to screening family members for heFH was mailed to heFH index patients and hypercholesterolaemic relatives. Anxiety was expressed by 44%, fear of ischaemic heart disease by 37% and diminished well-being by 13% of respondents. Six percent regretted that they were aware of their diagnosis, and 84% were in favour of screening their family. We conclude that a substantial proportion of persons with heFH experience anxiety due to heFH. A small minority regret being informed of the diagnosis of heFH, however, and a majority are in favour of family screening.