Dataset Information

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.

ABSTRACT: 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.

SUBMITTER: Kinnear FJ

PROVIDER: S-EPMC6094562 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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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.

Kinnear Fiona J FJ Perry Rachel R Searle Aidan A Hamilton-Shield Julian P JP Lithander Fiona E FE

Systematic reviews 20180816 1

<h4>Background</h4>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 ...[more]

PMID: 30111381

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Project description:ObjectivesIndividuals 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.DesignThis study conducted a thematic synthesis of qualitative studies.Data sourcesMEDLINE, Embase, PsycINFO via OVID, Cochrane library and CINAHL databases and grey literature sources were searched through September 2018.Eligibility criteriaWe 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 synthesisQuality 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.Results24 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.ConclusionsThe 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 numberCRD42018085946.

Project description:AimTo evaluate the effect of alirocumab on frequency of standard apheresis treatments [weekly or every 2 weeks (Q2W)] in heterozygous familial hypercholesterolaemia (HeFH).Methods and resultsODYSSEY ESCAPE (NCT02326220) was a double-blind study in 62 HeFH patients undergoing regular weekly or Q2W lipoprotein apheresis. Patients were randomly assigned (2:1, respectively) to receive alirocumab 150 mg (n = 41) or placebo (n = 21) Q2W subcutaneously for 18 weeks. From day 1 to week 6, apheresis rate was fixed according to the patient's established schedule; from weeks 7 to 18, apheresis rate was adjusted based on the patient's low-density lipoprotein cholesterol (LDL-C) response in a blinded fashion. Apheresis was not performed when the LDL-C value was ≥30% lower than the baseline (pre-apheresis) value. The primary efficacy endpoint was the rate of apheresis treatments over 12 weeks (weeks 7-18), standardized to number of planned treatments. In the alirocumab group the least square (LS) mean ± SE (95% confidence interval [CI]) per cent change in pre-apheresis LDL-C from baseline at week 6 was -53.7 ± 2.3 (-58.2 to - 49.2) compared with 1.6 ± 3.1 (-4.7 to 7.9) in the placebo group. The primary efficacy endpoint showed statistically significant benefit in favour of alirocumab (Hodges-Lehmann median estimate of treatment difference: 0.75; 95% CI 0.67-0.83; P < 0.0001). Therefore, alirocumab-treated patients had a 0.75 (75%) additional reduction in the standardized rate of apheresis treatments vs. placebo-treated patients. During this period, 63.4% of patients on alirocumab avoided all and 92.7% avoided at least half of the apheresis treatments. Adverse event rates were similar (75.6% of patients on alirocumab vs. 76.2% on placebo).ConclusionsLipoprotein apheresis was discontinued in 63.4% of patients on alirocumab who were previously undergoing regular apheresis, and the rate was at least halved in 92.7% of patients. Alirocumab was generally safe and well tolerated.

Project description:BackgroundFamilial hypercholesterolaemia (FH) is the most common inherited metabolic disease with an autosomal dominant mode of inheritance. It is characterised by raised serum levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-c), leading to premature coronary artery disease. Children with FH are subjected to early and enhanced atherosclerosis, leading to greater risk of coronary events, including premature coronary artery disease. To the best of our knowledge, this is the first report of a pair of monochorionic diamniotic identical twins with a diagnosis of heterozygous FH, resulting from mutations in both LDLR and ABCG8 genes.Case presentationThis is a rare case of a pair of 8-year-old monochorionic diamniotic identical twin, who on family cascade screening were diagnosed as definite FH, according to the Dutch Lipid Clinic Criteria (DLCC) with a score of 10. There were no lipid stigmata noted. Baseline lipid profiles revealed severe hypercholesterolaemia, (TC = 10.5 mmol/L, 10.6 mmol/L; LDL-c = 8.8 mmol/L, 8.6 mmol/L respectively). Their father is the index case who initially presented with premature CAD, and subsequently diagnosed as FH. Family cascade screening identified clinical FH in other family members including their paternal grandfather who also had premature CAD, and another elder brother, aged 10 years. Genetic analysis by targeted next-generation sequencing using MiSeq platform (Illumina) was performed to detect mutations in LDLR, APOB100, PCSK9, ABCG5, ABCG8, APOE and LDLRAP1 genes. Results revealed that the twin, their elder brother, father and grandfather are heterozygous for a missense mutation (c.530C > T) in LDLR that was previously reported as a pathogenic mutation. In addition, the twin has heterozygous ABCG8 gene mutation (c.55G > C). Their eldest brother aged 12 years and their mother both had normal lipid profiles with absence of LDLR gene mutation.ConclusionA rare case of Asian monochorionic diamniotic identical twin, with clinically diagnosed and molecularly confirmed heterozygous FH, due to LDLR and ABCG8 gene mutations have been reported. Childhood FH may not present with the classical physical manifestations including the pathognomonic lipid stigmata as in adults. Therefore, childhood FH can be diagnosed early using a combination of clinical criteria and molecular analyses.

Project description:BackgroundMany women stop breastfeeding before they intend to as they cannot overcome breastfeeding difficulties. Breastfeeding support, as an evidence-based intervention by trained lay or professional breastfeeding support providers, can prevent early unintended cessation. Yet some women report dissatisfaction with support and reluctantly stop breastfeeding despite receiving this intervention. Understanding the experiences which shape how support is provided can inform effective implementation of breastfeeding support interventions. This review aims to synthesise experiences of trained breastfeeding support providers in high income settings and how these may influence their breastfeeding support practices.MethodsA qualitative systematic review of trained breastfeeding supporters' experiences of supporting women to breastfeed, as part of a generic healthcare role or focused breastfeeding support role, will be conducted. A systematic search will be performed of the databases: Cumulative Index to Nursing and Allied Health Literature (CINAHL +), MEDLINE ALL, Maternity and Infant Care, EMBASE, APA PsycINFO, Web of Science and Scopus. Title and abstract screening using eligibility criteria will be conducted using Covidence software. Eligible papers will be agreed by the review team following full text screening and reported using PRISMA guidelines. CASP and COREQ tools will assess study methodological quality and quality of reporting. Data will be extracted using a bespoke form and coded, using Excel software for data management. Analysis will involve the three stages of thematic synthesis: initial free coding, development of descriptive and subsequent analytical themes. Confidence in findings will be assessed using the CERQual framework.DiscussionThis review is the first to date to synthesise qualitative evidence on experiences which influence how trained lay and professional providers support women with breastfeeding. Findings will enable deeper understanding of the underpinning mechanisms of breastfeeding support provision and inform the development of tailored interventions to improve breastfeeding rates.Systematic review registrationPROSPERO registration number: CRD42020207380.

Dataset Information

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.

Publications

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.

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