Nutrition and physical activity intervention for families with familial hypercholesterolaemia: protocol for a pilot randomised controlled feasibility study.

BACKGROUND: Untreated heterozygous familial hypercholesterolaemia (FH) causes high low-density lipoprotein cholesterol (LDL-C) levels and increased cardiovascular disease (CVD) risk. Despite pharmacological treatment, many treated individuals remain at higher CVD risk than non-affected individuals. This may be due to LDL-C targets not being met and presence of other CVD risk factors. Adhering to dietary and physical activity (PA) recommendations developed for individuals with FH may further reduce CVD risk. However, there is insufficient research to support the efficacy of adhering to these guidelines on LDL-C and other CVD risk factors. The need for studies to investigate the effectiveness of nutrition and PA interventions in the FH population has been widely recognised and recommended. This paper describes the protocol of a pilot, randomised controlled trial designed to evaluate the feasibility and acceptability of a specifically developed nutrition and PA intervention aimed at improving the dietary intakes and PA levels of families with FH. METHODS: A two-arm randomised waitlist-controlled pilot trial will be conducted across three National Health Service (NHS) sites in England, UK. Twenty-four young people with FH, aged 10-18 years, and their affected parent, will be recruited and randomly assigned to the intervention or waitlist and usual care control. The primary aim is to provide evidence for the feasibility and acceptability of delivering the intervention, explored quantitatively (rates of recruitment, retention and outcome measure completeness) and qualitatively (qualitative interviews). The secondary aim is to provide evidence for the potential efficacy of the intervention on dietary intake, PA, sedentary time, body composition, CVD risk factors and quality of life determined at baseline and endpoint assessments. The intervention will involve an hour-long consultation with a dietitian at baseline and four follow-up contacts across the 12-week intervention. It has been specifically developed for use with individuals with FH and incorporates behavioural change techniques to target identified enablers and barriers to adherence in this population. DISCUSSION: This trial will estimate the feasibility and acceptability of the nutrition and PA intervention delivered to young people and parents with FH. If appropriate, this study can be used to inform the design of an adequately powered definitive trial. TRIAL REGISTRATION: ISRCTN, ISRCTN24880714. Registered 07/06/2018, http://www.isrctn.com/ISRCTN24880714.

Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia: a qualitative evidence synthesis.

OBJECTIVES: Individuals with heterozygous familial hypercholesterolaemia (FH) are at high risk of developing cardiovascular disease (CVD). This risk can be substantially reduced with lifelong pharmacological and lifestyle treatment; however, research suggests adherence is poor. We synthesised the qualitative research to identify enablers and barriers to treatment adherence. DESIGN: This study conducted a thematic synthesis of qualitative studies. DATA SOURCES: MEDLINE, Embase, PsycINFO via OVID, Cochrane library and CINAHL databases and grey literature sources were searched through September 2018. ELIGIBILITY CRITERIA: We included studies conducted in individuals with FH, and their family members, which reported primary qualitative data regarding their experiences of and beliefs about their condition and its treatment. DATA EXTRACTION AND SYNTHESIS: Quality assessment was undertaken using the Critical Appraisal Skills Programme for qualitative studies. A thematic synthesis was conducted to uncover descriptive and generate analytical themes. These findings were then used to identify enablers and barriers to treatment adherence for application in clinical practice. RESULTS: 24 papers reporting the findings of 15 population samples (264 individuals with FH and 13 of their family members) across 8 countries were included. Data captured within 20 descriptive themes were considered in relation to treatment adherence and 6 analytical themes were generated: risk assessment; perceived personal control of health; disease identity; family influence; informed decision-making; and incorporating treatment into daily life. These findings were used to identify seven enablers (eg, 'commencement of treatment from a young age') and six barriers (eg, 'incorrect and/or inadequate knowledge of treatment advice') to treatment adherence. There were insufficient data to explore if the findings differed between adults and children. CONCLUSIONS: The findings reveal several enablers and barriers to treatment adherence in individuals with FH. These could be used in clinical practice to facilitate optimal adherence to lifelong treatment thereby minimising the risk of CVD in this vulnerable population. PROSPERO REGISTRATION NUMBER: CRD42018085946.

How do the experiences and beliefs of adults and children with heterozygous familial hypercholesterolaemia influence their adherence to treatment? A systematic review of qualitative evidence protocol.

BACKGROUND: Heterozygous familial hypercholesterolaemia (FH) is a genetic disorder characterised by elevated levels of low density lipoprotein (LDL) cholesterol from birth, estimated to affect 1 in 250 of the UK population. Left untreated, FH substantially increases an individual's risk of premature coronary heart disease (CHD) and associated mortality. This risk can be minimised with timely diagnosis and successful treatment with medication and lifestyle changes, as advocated in national and international guidelines. Despite these recommendations, the limited research available suggests adherence to treatment may be sub-optimal. This review will identify and synthesise the available qualitative research regarding the experiences and beliefs of adults and children with FH in relation to their condition and its treatment, and the influence of these upon treatment adherence. METHODS: The following electronic databases will be searched from their inception: Cochrane library, MEDLINE, Embase, PsycINFO (via OVID) and CINAHL. Studies available in English and reporting primary qualitative data will be included. Database searching will be supplemented with searches in relevant specialist websites. The references of identified papers will also be hand searched. Two reviewers will independently screen titles and abstracts of identified studies, with full texts of potentially relevant papers retrieved for review against pre-defined inclusion and exclusion criteria. The Critical Appraisal Skills Programme (CASP) Qualitative Research checklist will be used to assess quality of the included studies, and the results will be taken into consideration when reporting the findings. A data extraction tool will be created for use in this review to extract study findings relevant to the review questions. A thematic synthesis approach will be taken to analyse the results. DISCUSSION: Adherence to treatment recommendations is crucial for the successful management of FH and subsequent decrease in risk of CHD later in life. Common identified themes could provide an understanding of the beliefs and experiences which influence adherence to treatment recommendations and provide an insight into perceived barriers and facilitators. The findings are intended to be used in the development of future interventions or guidelines regarding treatment of children and adults with FH. SYSTEMATIC REVIEW REGISTRATION: PROSPERO registration number: CRD42018085946.