Genetic analysis of familial hypercholesterolaemia in Western Australia

Hooper, Amanda J.; Nguyen, Lan Thi Ngoc; Burnett, John R.; Bates, Timothy R.; Bell, Damon A.; Redgrave, Trevor G.; Watts, Gerald F.; Bockxmeer, Frank M. van

doi:10.1016/j.atherosclerosis.2012.07.030

Cited by 66 publications

(59 citation statements)

References 19 publications

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“…The majority of cases of FH are due to mutations in the LDL-receptor (LDLR), apolipoprotein B-100 (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes [2]. A pathogenic mutation in one of these genes is identified in about 70% of phenotypically definite FH and 20% of phenotypically probable/possible FH [78,[84][85][86]. New molecular techniques, such as whole exome sequencing, can lead to the discovery of novel mutations [87]; this may be particularly applicable to under-studied multiethnic populations [88].…”

Section: Genetic Testingmentioning

confidence: 99%

“…However, failure to detect a mutation does not exclude a diagnosis of FH, particularly if the clinical phenotype is highly suggestive of FH [6,8]. To optimize the use of resources, DNA testing may only be offered to index patients with DLCNS >5 or meeting the Simon Broome possible criteria, especially those with a personal history of early onset (<60 years) CVD or imaging evidence of significant subclinical atherosclerosis [8,57,[84][85][86].…”

Section: Genetic Testingmentioning

confidence: 99%

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Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

Watts

Gidding²,

Wierzbicki

et al. 2014

Eur J Prev Cardiolog

143

204

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Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources.

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Section: Genetic Testingmentioning

confidence: 99%

Section: Genetic Testingmentioning

confidence: 99%

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

Watts

Gidding²,

Wierzbicki

et al. 2014

Eur J Prev Cardiolog

143

204

View full text Add to dashboard Cite

show abstract

“…10 When patients are classified on the basis of the Dutch Lipid Clinic Network Criteria (DLCNC) score as 'possible'(43 and o5), 'probable' (45 ando8), or 'definite' FH (48), 70% of 'definite' FH patients were found to carry a mutation, only 29% of 'probable' and 11% of 'possible' FH patients were mutation-positive. 11 Considering a similar mutation screening strategy these rates can be expected to be similar for most European populations.…”

Section: Clinical Sensitivity (Proportion Of Positive Tests If the DImentioning

confidence: 99%

Clinical utility gene card for: Hyperlipoproteinemia, TYPE II

et al. 2013

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“…Owing to the very high population density in some Asian countries, Asia is estimated to have the sin/kexin type 9) 1,23,24) . The prognostic importance of identifying a genetic mutation causative of FH in patients with profound hypercholesterolemia in the community has recently been underscored 25) .…”

Section: Impetus For the Investigationmentioning

confidence: 99%

“…LDL-cholesterol levels from a fasting blood sample at screening will be adjusted if required for the type and dose of cholesterol-lowering drugs 28) . Mutational analyses for defects in the LDLR, APOB, and PCSK9 genes and assessment of pathogenicity have been uniformly performed as described elsewhere 18,24,29,30) . The ability of plasma LDL-cholesterol concentrations to predict a genetic variant will be investigated using receiver operator characteristic curves.…”

Section: (2) Epidemiology: Prevalence Of Fh In Community and High-rismentioning

confidence: 99%

Translational Research for Improving the Care of Familial Hypercholesterolemia: The “Ten Countries Study” and Beyond

Watts

Ding²,

George

et al. 2016

J Atheroscler Thromb

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Familial hypercholesterolemia (FH) is the most common and serious form of inherited hyperlipidaemia. Dominantly inherited with high penetrance, untreated FH leads to premature death from coronary artery disease due to accelerated atherosclerosis from birth. Despite its importance, there is still a major shortfall in awareness, detection and treatment of FH worldwide. International models of care for FH have recently been published, but their effective implementation requires the garnering of more knowledge about the condition. The "Ten Countries Study" aims to investigate diagnostic, epidemiological and service aspects, as well as physician practices and patient experiences of FH in several countries in the Asia-Pacific Region and the Southern Hemisphere. Five observational studies are being undertaken that will systematically investigate the following aspects of FH: the phenotypic predictors of low-density lipoprotein receptor mutations, the point prevalence in available community populations, current knowledge and clinical practices among primary care physicians, availability and utilisation of services and facilities, and patient perceptions and personal experiences of the condition. The information gathered will inform better clinical practice and will enable the development of country-specific models of care for FH.

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Genetic analysis of familial hypercholesterolaemia in Western Australia

Cited by 66 publications

References 19 publications

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

Clinical utility gene card for: Hyperlipoproteinemia, TYPE II

Translational Research for Improving the Care of Familial Hypercholesterolemia: The “Ten Countries Study” and Beyond

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