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

Kinnear, Fiona J.; Shield, Julian P H; Stensel, David J.; Bayly, Graham; Searle, Aidan; Thackray, Alice E.; Lithander, Fiona E

doi:10.1186/s40814-020-00584-3

Cited by 4 publications

(4 citation statements)

References 81 publications

(89 reference statements)

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“…These patients' cases were initially managed in primary care with statins and therapeutic lifestyle modification, which included advice on dietary intake and physical activity. Patients with FH are recommended to receive individualized advice diet, physical activity, and healthy weight maintenance from healthcare providers to reduce their cardiovascular risks [49][50][51]. With regards to the pharmacological management for patients with FH, the current Malaysian clinical practice guideline recommends the combination of high-dose potent statins with either ezetimibe or PCSK9 inhibitors for those who fail to achieve the LDL-c target of <1.8 mmol/L [22].…”

Section: Discussionmentioning

confidence: 99%

Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care

et al. 2023

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Objective:Rare disease Background:In Malaysia, the prevalence of genetically confirmed heterozygous familial hypercholesterolemia (FH) was reported as 1 in 427. Despite this, FH remains largely underdiagnosed and undertreated in primary care. Case Reports:In this case series, we report 3 FH cases detected in primary care due to mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein-B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. The mutations in case 1 (frameshift c.660del pathogenic variant in LDLR gene) and case 2 (missense c.10579C>T pathogenic variant in APOB gene) were confirmed as pathogenic, while the mutation in case 3 (missense c.277C>T mutation in PCSK9 gene) may have been benign. In case 1, the patient had the highest LDL-c level, 8.6 mmol/L, and prominent tendon xanthomas. In case 2, the patient had an LDL-c level of 5.7 mmol/L and premature corneal arcus. In case 3, the patient had an LDL-c level of 5.4 mmol/L but had neither of the classical physical findings. Genetic counseling and diagnosis were delivered by primary care physicians. These index cases were initially managed in primary care with statins and therapeutic lifestyle modifications. They were referred to the lipid specialists for up-titration of lipid lowering medications. First-degree relatives were identified and referred for cascade testing. Conclusions:This case series highlights different phenotypical expressions in patients with 3 different FH genetic mutations. Primary care physicians should play a pivotal role in the detection of FH index cases, genetic testing, management, and cascade screening of family members, in partnership with lipid specialists.

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Section: Discussionmentioning

confidence: 99%

Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care

et al. 2023

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“…The study protocol is published, 20 and a Consolidated Standards of Reporting Trials checklist 21 is displayed in online supplemental file 1 .…”

Section: Methodsmentioning

confidence: 99%

“…Behavioural outcomes were measured in the week preceding these visits. A summary is provided below, with full details elsewhere 20 and in online supplemental file 3 .…”

Section: Methodsmentioning

confidence: 99%

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Reducing cardiovascular disease risk among families with familial hypercholesterolaemia by improving diet and physical activity: a randomised controlled feasibility trial

et al. 2020

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ObjectiveFamilial hypercholesterolaemia (FH) elevates low-density lipoprotein cholesterol (LDL-C) and increases cardiovascular disease (CVD) risk. This study aimed to provide evidence for the feasibility of conducting a randomised controlled trial to evaluate the efficacy of an intervention designed to improve diet and physical activity in families with FH.DesignA parallel, randomised, waitlist-controlled, feasibility pilot trial.SettingThree outpatient lipid clinics in the UK.ParticipantsFamilies that comprised children (aged 10–18 years) and their parent with genetically diagnosed FH.InterventionFamilies were randomised to either 12-week usual care or intervention. The behavioural change intervention aimed to improve dietary, physical activity and sedentary behaviours. It was delivered to families by dietitians initially via a single face-to-face session and then by four telephone or email follow-up sessions.Outcome measuresFeasibility was assessed via measures related to recruitment, retention and intervention fidelity. Postintervention qualitative interviews were conducted to explore intervention acceptability. Behavioural (dietary intake, physical activity and sedentary time) and clinical (blood pressure, body composition and blood lipids) outcomes were collected at baseline and endpoint assessments to evaluate the intervention’s potential benefit.ResultsTwenty-one families (38% of those approached) were recruited which comprised 22 children and 17 adults with FH, and 97% of families completed the study. The intervention was implemented with high fidelity and the qualitative data revealed it was well accepted. Between-group differences at the endpoint assessment were indicative of the intervention’s potential for improving diet in children and adults. Evidence for potential benefits on physical activity and sedentary behaviours was less apparent. However, the intervention was associated with improvements in several CVD risk factors including LDL-C, with a within-group mean decrease of 8% (children) and 10% (adults).ConclusionsThe study’s recruitment, retention, acceptability and potential efficacy support the development of a definitive trial, subject to identified refinements.Trial registration numberISRCTN24880714.

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Novel behavioural approaches and implementation science for mitigating genetic risk of cardiovascular disease due to elevated lipoprotein(a)

Mullan

Chan

Charlesworth

et al. 2020

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Purpose of review Elevated lipoprotein(a) [Lp(a)] is a genetic trait that indicates higher risk of atherosclerotic cardiovascular disease (ASCVD). We review novel strategies to mitigate behavioural risk-factors in this genetic condition. Recent findings Pharmacological and biological interventions are available for lowering Lp(a). However, the acceptability and feasibility of these approaches are questionable due to cost and lack of clinical evidence for their efficacy. A number of low-cost, minimal patient contact interventions are available for modifying behavioural risk-factors that are associated with increased risk of ASCVD familial hypercholesterolaemia and diabetes. These include lifestyle interventions designed to improve diet and physical activity. These interventions may be particularly important among individuals with elevated Lp(a) to manage their higher risk of diabetes and ASCVD. The following article outlines recent research that has examined such low-cost, minimal patient contact interventions. Summary The current research indicated that such interventions, which are grounded in psychological theory, can assist individuals to improve their diet and physical activity. These findings have implications for developing and implementing similar interventions for individuals with elevated Lp(a), so as to assist in reducing behavioural risk-factors associated with ASCVD.

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

Cited by 4 publications

References 81 publications

Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care

Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care

Reducing cardiovascular disease risk among families with familial hypercholesterolaemia by improving diet and physical activity: a randomised controlled feasibility trial

Novel behavioural approaches and implementation science for mitigating genetic risk of cardiovascular disease due to elevated lipoprotein(a)

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