Table 2.

Analytical themes and their composite descriptive themes with illustrative quotes

Analytical theme	Descriptive themes	Illustrative quotes from participants (first order)	Illustrative interpretations from authors (second order)
Risk assessment	FH is a silent disease	‘Not a condition that has any symptoms, that makes you feel ill or anything.’52	‘The majority of interviewees did not look on the condition as a disease…If they were not affected by a cardiac disease…they regarded themselves as healthy.’49
	Family history modifies perception of FH-related threat to health	‘I’m not going to get past sixty. Dad never got past sixty.’53	‘To them, reaching the age of death of a parent with FH was anticipated with fear of having a heart attack themselves.’60
	FH is not as threatening to health as other conditions	‘Its not that bad…. Its not like having something like Huntington’s or something like that.’51	They mentioned conditions with more drastic consequences such as allergies, epilepsy or diabetes.’47
Perceived personal control of health	FH is a manageable condition	‘Well it’s treatable isn’t it by diet and drugs. It’s not something that’s incurable.’48	‘FH carrier children demonstrated high feelings of control over their condition.’59
	Individuals feel personally responsible for managing their FH	‘It means you could be in danger of like what could possibly happen like in the future if you don’t change anything.’58	‘FH patients have a strong desire to empower themselves in order to improve their own health.’50
	FH medication is effective	‘I believe that as I am taking the pills that my risk of heart attack is no greater than anyone else of my age or weight.’61	‘Preventative medical treatment built confidence in the potential for living a long life.’55
	FH lifestyle treatment viewed as less important than medication	‘I could never get that down no matter how much dieting or exercise I do…so it can only be reduced through medication.’48	‘Many tended to devalue the importance of lifestyle changes in controlling FH and place their hope in medication.’23
Disease identity	Importance of establishing that high cholesterol levels are not self-inflicted	‘It enables me to emphasise that it is not my fault, that it’s something inherited.’62	‘They always described FH as a hereditary condition to underline that their cholesterol issues were not due to unhealthy lifestyle.’60
	Receiving genetic diagnosis provides certainty	‘I guess it is a relief in a funny way because I had an answer to what was quite a surprising medical condition that I had…so at least I know now and can take preventative measures.’54	‘It provided an aetiological explanation and diagnostic label, confirmed current risk management practices…’24
The influence of family	Desire to protect children	‘We want to help him…(so) we have decided to give him statins until he is 16…we’ve covered him until he’s old enough to decide for himself.’56	‘In fact, the main concern for the affected parents appeared to be the well-being of their children…’49
	Parental influence on treatment related behaviours	‘My parents, specifically my mom, were really integral in teaching us types of food to eat.’25	‘AYAs expressed how their perceptions of their parents experience have influenced their perceptions of the respective treatment options.’58
	FH and its treatment become normalised within families	‘Since I grew up with FH and had a relatively good diet and good habits and routines, it makes it easier.’47	‘FH carrier children typically reported it had become habit to maintain a healthy, non-fat diet. Commonly the whole family, including the non-carriers, kept to the same diet restrictions.’59
Informed decision making	HCP interactions	‘My daughter. I don’t think she really understood what (high cholesterol) really meant until she came here and talked with doctor.’58	‘The doctors presentation of FH, however, influenced all patients perceptions of the risk and severity of the diagnosis.’60
	Inadequate and/or incorrect knowledge about FH and treatment	‘in the newspapers, the stories that you cut out butter, red meat, etc, and you’ll be okay.’61	‘Many informants still had unanswered questions or were felt to lack relevant knowledge.’49
	Concerns about side effects of FH medication	‘Would I be able to have children at all after taking all these medicines for years?’49	‘Parents reported having strong concerns about statin treatment in children, not only because of their long-term safety but also potential side effects.’56
Incorporating treatment into daily life	FH and its treatment does not have big impact on life	‘You don’t have to plan your life around it. You don’t have to wonder, can you have children or not.’51	‘FH was not viewed as a significant burden, but more of a lifestyle adjustment, involving a healthy diet, exercise, and statin treatment from an early age.’56
	Balancing FH treatment with other competing priorities	‘Our two children, who were often ill…. My husband…travelled all the time, so I almost had more than I could put up with at that moment.’62	‘Young adults also articulated challenges maintaining diet and exercise regimes while adjusting to a new routine and environment at college or in workforce.’25
	Lifestyle advice treatment is restrictive and difficult to follow	‘I’ve changed my diet as much as I can… don’t want to bother too much and speculate, live an unworthy life and diet at the age of seventy. I’d rather be happy and die when I’m fifty.’24	‘Making dietary changes had been the worst aspect of their condition, and this included people who already had CHD.’62
	Social implications of following FH treatment	‘Some people comment on the things I eat. And then I’m like ‘well actually I have to eat this because I’ve got FH and I have to watch my diet.’54	‘10 young adults articulated how concern over peers’ opinions or overt peer pressure-restricted social activities centred around eating.’25
	Desire for further support and guidance	I think having the resources (would make it easy to adhere to lifestyle treatment)…like seeing a nutritionist that can give you options….’25	‘…expressed a desire to be able to access educational resources in one place and for a way to reach out to others who could provide solidarity, comfort and aid with management of FH.’50

AYA, adolescent and young adult; CHD, cardiovascular heart disease; HCP, healthcare professional.