Familial hypercholesterolaemia patient support groups and advocacy: A multinational perspective

Payne, Jules; Williams, Simon; Maxwell, Diana; Pariente, Ma Teresa; Olivares, Raquel Arroyo; Haaf, Marlieke Janssen ten; Wong‐Rieger, Durhane; Rieger, Fritz; Covato, Angela; Wong-Rieger, Hilary; Cermakova, Luba; Wilemon, Katherine

doi:10.1016/j.atherosclerosis.2018.08.020

Cited by 15 publications

(11 citation statements)

References 6 publications

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“…This includes the following: new knowledge on population prevalence [6][7][8]; screening methods [3,5,13,21] including use of non-fasting samples [22]; the role of primary care in detection and treatment [23]; new diagnostic gene technologies and genetic testing protocols [24]; methods for risk re-stratification, including estimation of lipoprotein(a) [25][26][27][28] and non-invasive cardiovascular imaging [3,29,30]; screening and treatment of children [12,31,32]; the safety and tolerability of statins [33,34]; the efficacy and application of new therapies (eg. proprotein convertase subtilisin/kexin type 9 inhibitors); management of homozygous FH including use of lipoprotein apheresis [35][36][37]; comprehensive health economic evaluations [38,39]; organisation of services [3], clinical registries [40][41][42]; role of advocacy and patient support groups [43]; and, definitions of research programs [3,11,44]. This evolving knowledge was reviewed systematically by representatives of the Writing Committee of this guidance in collaboration with international experts in the field in a period up to September 2019.…”

Section: Exponential Growth Of Knowledge On Fh: Review Of Evidencementioning

confidence: 99%

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Watts

Sullivan

Hare

et al. 2021

Heart, Lung and Circulation

127

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Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits all Australian families with or at risk of FH.

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Section: Exponential Growth Of Knowledge On Fh: Review Of Evidencementioning

confidence: 99%

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Watts

Sullivan

Hare

et al. 2021

Heart, Lung and Circulation

127

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“…The establishment of Familial Hypercholesterolaemia Support Group, a community-level voluntary organisation, may provide education to the FH patients and their family members on how to live with FH, and morally support the FH patients to practise healthy lifestyle. The support group is being implemented in Australia, Canada and some European Countries (Payne et al, 2018;Watts et al, 2012), but currently,it is still not practised in Malaysia.…”

Section: Discussionmentioning

confidence: 99%

Classification of Familial Hypercholesterolaemia Using Ordinal Logistic Regression

Jamaludin¹,

Wah²,

Nawawi³

et al. 2020

JST

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Familial hypercholesterolaemia (FH) is a genetic disease that causes the elevation of low-density lipoprotein cholesterol (LDL-C), which subsequently leads to premature coronary heart disease (CHD). Features which have been reported to be associated with FH include lipids level, tendon xanthomata, and history of CHD. The Ordinal Logistic Regression model using the classification of FH patients with the Dutch Lipid Clinic Network Criteria (DLCN) as the dependent variable (where 1=Possible, 2=Probable, 3=Definite) was developed and evaluated for different types of link functions. The FH patients (n = 449) were recruited from health screening programmes conducted in hospitals and clinics in Malaysia from 2010 to 2018. Results indicate there is a significant association between FH categories with demographic factors (ethnicity and smoking) and physical symptoms (corneal arcus and xanthomata). The Ordinal Logistic Regression using Cauchit link function has lower Akaike Information Criterion (AIC) value, higher Nagelkerke's R-Square and classification accuracy compared to Probit and Logit link function, diastolic blood pressure, corneal arcus and xanthomata were found to be significant covariates of FH.

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“…The value of patient support networks is exemplified by the activities of several organizations like the US FH Foundation, Spanish FH Foundation and the European FH Patient Network. 81…”

Section: Patient Network and Support Groupsmentioning

confidence: 99%

<p>Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care</p>

Alonso¹,

Isla²,

Muñiz-Grijalvo³

et al. 2020

VHRM

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Familial hypercholesterolemia (FH) is a frequent disorder associated with premature atherosclerotic cardiovascular disease. Different clinical diagnosis criteria are available, and cost of genetic testing has been reduced in the last years; however, most cases are not diagnosed worldwide. Patients with FH are at high cardiovascular risk and the risk can be reduced with lifelong lifestyle and pharmacological treatment. Statins and ezetimibe are available as generic drugs in most countries reducing the cost of treatment. However, the use of high-intensity statins combined with ezetimibe and PCSK9 inhibitors, if necessary, is low for different reasons that contribute to a high number of patients not reaching LDL-C targets according to guidelines. On the other hand, cardiovascular risk varies greatly in families with FH; therefore, risk stratification strategies including cardiovascular imaging is another element to consider for improving care and management of FH. There are numerous barriers depending on the awareness, knowledge, perception of risk, management and care of patients living with FH that impact in the diagnosis and treatment of the disorder. In this contemporary review, we analyze different barriers in the diagnosis and care of patients to improve patients' care and prevention of atherosclerotic cardiovascular disease and describe recent advances and strategies to improve the gaps in the care of FH, including global collaboration and advocacy.

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Familial hypercholesterolaemia patient support groups and advocacy: A multinational perspective

Cited by 15 publications

References 6 publications

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Classification of Familial Hypercholesterolaemia Using Ordinal Logistic Regression

<p>Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care</p>

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