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Dr Gerald Watts


Presentation Title


Inherited Heart Disease: Familial Hypercholesteraemia and related paradigms

 Frontiers in Genetics Session



Benjamin Franklin: ‘An ounce of prevention is worth a pound of cure’ Familial hypercholesterolaemia (FH) is the most common dominantly inherited disorder. It has a high phenotypic penetrance and is characterised by very high levels of both plasma low-density lipoprotein (LDL)-cholesterol and risk of premature coronary artery disease (CAD). The prevalence of FH is now estimated to be 1:300 , with up to 80,000 cases in Australia, most of whom are undiagnosed. In a GP practice of 10,000 patients there are likely to be 35 cases of FH and on average of 8 families bearing the condition. The relative risk of CAD in untreated FH ranges from 10 to 20-fold, being higher in men than women. Many cases are first diagnosed with a first myocardial infarction and the risk of a recurrent event is two-fold higher than in non-FH patients. Hence, FH has to be viewed as a major area of unmet medical need and a public health issue. To buttress the gaps in care several clinical practice guidelines have recently been published on FH. Most significantly, the clinical consequences of FH are preventable through early detection and treatment with lifestyle measures and effective LDL-cholesterol lowering therapies. This can save lives and relieving suffering of affected individuals and their families, as well curtail expenditure on healthcare for preventable acute coronary syndromes and their sequelae. Opportunistic, selective and universal screening approaches can be justified but need effective implementation. The management and care of patients and families with FH is a classic exemplar of precision medicine involving genetic testing, cardiac imaging and therapies targeted at correcting the molecular defect in the LDL receptor pathway.



Gerald Watts trained at Imperial and King’s Colleges, London University, United Kingdom. He is a senior consultant physician, specializing in cardiometabolic medicine, and current chair of The Familial Hypercholesterolaemia-Australasia Network and Executive Board Member of the International Atherosclerosis Society. He is the clinical lead of Cardiometabolic Services in the Department of Cardiology at Royal Perth Hospital and is Professor of Cardiometabolic Medicine in the University of Western Australia. Research interests include lipid disorders, obesity and cardiovascular prevention, and clinical interest focuses on delivering improved health care for high risk dyslipidemias, particularly familial hypercholestrolaemia. He has supervised several Masters and PhD students and post-doctoral research fellows, and holds several research grants and has multiple international collaborations. Professor Watts has authored over 550 published works and is on the editorial board of Atherosclerosis, Clinical Science, Metabolism, Journal of Clinical Lipidology, and Current Opinion in Lipidology.


Last Updated on Monday, 21 August 2017 14:38
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