This study investigates perceptions of familial hypercholesterolaemia (FH) and its genetic basis in patients diagnosed with, and receiving treatment for, FH. Semi-structured interviews were conducted with seven patients. Transcripts were analysed using interpretative phenomenological analysis (IPA). Participants reported engaging in an active process of seeking causes for their FH. FH was invariably attributed to genes. In some cases diet and stress were also considered as causes of FH. Causal attributions appear to be both a determinant and a result of behavioural strategies to reduce risk. On the whole, FH was perceived as unproblematic, a perception that appeared to reflect downward social comparison processes. Nonetheless, participants reported acting in ways consonant with the perception of an increased risk of heart attack, in particular, being vigilant to symptoms of a possible heart attack.