Familial hypercholesterolaemia: A model of care for Australasia

Watts, Gerald F.; Sullivan, David; Poplawski, Nicola; Bockxmeer, Frank M. van; Hamilton‐Craig, Ian; Clifton, Peter M.; O'Brien, Richard C; Bishop, Warrick; George, Peter M.; Barter, Philip J.; Bates, Timothy R.; Burnett, John R.; Coakley, John; Davidson, Patricia M.; Emery, Jon; Martin, Andrew C.; Farid, Waleed; Freeman, Lucinda; Geelhoed, Elizabeth; Juniper, A.; Kidd, Alexa; Kostner, Karam; Krass, Ines; Livingston, Michael; Maxwell, Susannah; O’Leary, Peter; Owaimrin, Amal; Redgrave, Trevor G.; Reid, Nicola; Southwell, L.; Suthers, Graeme; Tonkin, Andrew; Towler, Simon; Trent, Ronald J.

doi:10.1016/j.atherosclerosissup.2011.06.001

Cited by 187 publications

(569 citation statements)

References 241 publications

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“…Cascade screening should begin by contacting first-and then second-degree relatives, who then become probands for risk notification of their own relatives [6,8,80]. The index case should discuss family risk notification with the clinician or nurse, who will construct a family pedigree and identify relatives who should be offered testing for FH [6,8,33].…”

Section: Contacting and Informing Familiesmentioning

confidence: 99%

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

Watts

Gidding

Wierzbicki

et al. 2014

International Journal of Cardiology

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Section: Contacting and Informing Familiesmentioning

confidence: 99%

“…Cascade screening should start with first-degree relatives (i.e. parents, siblings, offsprings) and then be extended to second-and third-degree relatives [6,8,33].…”

Section: Cascade Screening: Risk Notification Of Familiesmentioning

confidence: 99%

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

Watts

Gidding

Wierzbicki

et al. 2014

International Journal of Cardiology

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329

200

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“…Services need improvement and standardization at several levels 18,43) . This includes pediatric services, cascade screening, and multidisciplinary care that involves laboratory medicine, cardiology, and transfusion medicine.…”

Section: (4) Health Service Research: Comparison Of Services and Facimentioning

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%

“…This provides an early foundation for the development of expert guidelines, essential services, and new models of care in Asian countries. Guidelines and diagnostic criteria for FH have hitherto been produced by Japan 17) and Australasia 18) ; Hong Kong 19) and South Korea 20) also recently communicated their experiences in managing FH. This is a good start to a long journey.…”

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confidence: 99%

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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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Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia

et al. 2020

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ImportanceFamilial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH.ObservationsIn 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing country-specific and international FH scientific statements and guidelines, country-specific and international FH registries, and known FH advocacy organizations around the world were created.Conclusions and RelevanceBy adopting the 9 updated public policy recommendations created for this document, covering awareness; advocacy; screening, testing, and diagnosis; treatment; family-based care; registries; research; and cost and value, individual countries have the opportunity to prevent atherosclerotic heart disease in their citizens carrying a gene associated with FH and, likely, all those with severe hypercholesterolemia as well.

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Familial hypercholesterolaemia: A model of care for Australasia

Cited by 187 publications

References 241 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

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

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia

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