Exploring the lived experiences of FH in childhood.

  • Research type

    Research Study

  • Full title

    Exploring the lived experience of being diagnosed with genetically confirmed Familial Hypercholesterolaemia in childhood.



  • Contact name

    Stephanie Archer

  • Contact email


  • Sponsor organisation

    Imperial College London

  • Duration of Study in the UK

    0 years, 6 months, 31 days

  • Research summary

    Familial hypercholesterolaemia (FH) is a genetic condition characterised by impaired clearance of low density lipoprotein cholesterol (LDL-c) from the bloodstream. This results in high levels of cholesterol which are present in an individual with FH from birth and consequently predisposes them to progressive arteriosclerosis throughout childhood. Early identification of children with FH and the initiation of risk factor management and lipid lowering therapies are necessary in order to reduce the risk of premature cardiovascular disease. Currently pediatric genetic testing for FH is carried out from the age of 4 and patients are seen initially in a pediatric clinic on a yearly basis subsequently transferring to a young person's clinic before transitioning to adult care around the age of 25. There is currently no published data that considers the experience of a patient diagnosed with FH in childhood and the impact that such a diagnosis may have growing up. A small scale qualitative study has been designed to explore the views of patients in our young adult group who were diagnosed with FH aged 15 or younger. Potential participants will be recruited from the young persons clinic held at Harefield Hospital. The research will be carried out in the form of semi structured interviews and it is hoped that the researcher will gain an insight into how living with an FH diagnosis in childhood has impacted on the lives of the young people within our clinic. They will be sent information about the study and will be asked to respond by post or telephone if they wish to take part. Once the data from the interview has been recorded it will be transcribed and analysed to understand the participants lived experience and how they make sense of their experience of living with an FH diagnosis. This project does not require funding.

  • REC name

    London - Central Research Ethics Committee

  • REC reference


  • Date of REC Opinion

    14 Feb 2020

  • REC opinion

    Favourable Opinion