title: Patients' perceptions and experiences of familial hypercholesterolemia, cascade genetic screening and treatment.
abstract: BACKGROUND
  Familial hypercholesterolemia (FH) is a serious genetic disorder affecting approximately 1 in every 300 to 500 individuals and is characterised by excessively high low-density lipoprotein (LDL) cholesterol levels, substantially increased risk of early-onset coronary heart disease (CHD) and premature mortality. If FH is untreated, it leads to a greater than 50 % risk of CHD in men by the age of 50 and at least 30 % in women by the age of 60. FH can be diagnosed through genetic screening and effectively managed through pharmacological treatment and lifestyle changes.
  
  
  OBJECTIVE
  Familial hypercholesterolemia (FH) is a genetic health condition that increases the risk of cardiovascular disease. Although FH can be effectively managed with appropriate pharmacological and dietary interventions, FH detection rate through genetic screening remains low. The present study explored perceptions and experiences of FH patients (N = 18) involved in a genetic cascade screening programme.
  
  
  METHODS
  Face-to-face interviews were conducted to assess patients' knowledge and understanding of FH, explore factors linked to adherence to health-protective behaviours and examine perceptions of genetic screening.
  
  
  RESULTS
  Thematic analysis of interviews revealed four themes: disease knowledge, severity of FH, lifestyle behavioural change and barriers to cascade screening and treatment. Participants recognised FH as a permanent, genetic condition that increased their risk of CHD and premature mortality. Many participants dismissed the seriousness of FH and the importance of lifestyle changes because they perceived it to be effectively managed through medication. Despite positive attitudes toward screening, many participants reported that relatives were reluctant to attend screening due to their relatives' 'fatalistic' outlook or low motivation. Participants believed that they had insufficient authority or control to persuade family members to attend screening and welcomed greater hospital assistance for contact with relatives.
  
  
  CONCLUSIONS
  Findings support the adoption of direct methods of recruitment to cascade screening led by medical professionals, who were perceived as having greater authority. Other implications included the need for clinicians to provide clear information, particularly to those who are asymptomatic, related to the seriousness of FH and the necessity for adherence to medication and lifestyle changes.
authors.affiliation: School of Sport and Service Management, University of Brighton, Denton Road, Eastbourne, East Sussex, BN20 7SP, UK.
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Hardcastle
authors.forename: Ellen
authors.initials: E
authors.lastname: Legge
authors.forename: Chris S
authors.initials: CS
authors.lastname: Laundy
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Egan
authors.forename: Rosemary
authors.initials: R
authors.lastname: French
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.forename: Martin S
authors.initials: MS
authors.lastname: Hagger
mesh_terms: D000328:Adult; D000368:Aged; D002318:Cardiovascular Diseases / Q000209:etiology*; D003327:Coronary Disease / Q000209:etiology*; D005190:Family / Q000523:psychology; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000523:psychology* / Q000628:therapy; D008297:Male; D008875:Middle Aged