RESUMO
The main aim of the study was to explore the extent to which familial hypercholesterolemia (FH) influences the life of the patients affected. The study employed a qualitative analysis of semi-structured interviews with 23 outpatients who were being treated following a diagnosis of heterozygous FH at a tertiary hospital in Göteborg, Sweden. Some interviewees reported concerns related to their medication and feelings of guilt when not complying with treatment recommendations. However, none of the respondents expressed sustained emotional distress or would have preferred to be ignorant of their diagnosis. Apart from being more observant about food intake, their awareness of FH did not appear to have had a substantial impact on their way of life. In fact, those who did not suffer from any other diseases generally regarded themselves as healthy. Discussing the genetic constitution with family members with whom they had close contact was natural, but informing distant family members was not.