title: Familial hypercholesterolaemia reduces the quality of life of patients not reaching treatment targets.
abstract: BACKGROUND
  Familial hypercholesterolaemia (FH) is the most common monogenic disorder associated with premature cardiovascular disease. If untreated, life expectancy in heterozygous FH patients is shortened by 20-30 years compared with the general population. Nevertheless, treatment goals are only met in approximately 50% of patients. This comparative study examined the quality of life (QoL) impact of FH in patients who had and had not reached the target of treatment.
  
  
  METHODS
  Two qualitative focus group interviews were carried out with a total of ten FH patients. A semi-structured interview guide included questions identified in a preceding literature study. The data were analysed using a medical anthropological approach.
  
  
  RESULTS
  While having FH did not have much impact on well-treated patients' QoL, patients who had not reached the treatment target had markedly more concerns. They had experienced severe side-effects and worried about their own and their relatives' health. They were concerned about the long-term impact of not being effectively treated including the risk that coronary heart disease could cause their premature death or disability and inability to care for their children, in particular. The women had issues with stigma and self-efficacy.
  
  
  CONCLUSIONS
  The QoL impact of FH is related to treatment efficacy. These findings need to be addressed in the management of FH patients. Particular attention should be paid to those who are not presently reaching the target of treatment.
  
  
  BACKGROUND
  The study was funded by a research grant from Amgen.
  
  
  BACKGROUND
  not relevant.
authors.affiliation: glm@anthroconsult.dk.
authors.forename: Gitte Lee
authors.initials: GL
authors.lastname: Mortensen
authors.forename: Ivan Bredbjerg
authors.initials: IB
authors.lastname: Madsen
authors.forename: Charlotte
authors.initials: C
authors.lastname: Kruse
authors.forename: Henning
authors.initials: H
authors.lastname: Bundgaard
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002318:Cardiovascular Diseases / Q000150:complications; D002648:Child; D042241:Early Diagnosis; D005260:Female; D017144:Focus Groups; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000523:psychology* / Q000628:therapy*; D008017:Life Expectancy; D008297:Male; D055118:Medication Adherence; D008875:Middle Aged; D010342:Patient Acceptance of Health Care; D036301:Qualitative Research; D011788:Quality of Life; D012307:Risk Factors; D055815:Young Adult