Article
Pharmacology & Pharmacy
Nick S. R. Lan, Archna Bajaj, Gerald F. Watts, Marina Cuchel
Summary: Familial hypercholesterolaemia (FH) is a common genetic disorder characterized by elevated LDL-C levels and increased risk of ASCVD. Many patients with FH do not achieve LDL-C goals despite treatment with statins and ezetimibe. New therapies targeting PCSK9 and ANGPTL3 have shown promising results in closing the treatment gap. This review discusses current and emerging treatment strategies for FH and emphasizes the importance of risk-stratification and implementation strategies for patient care.
PHARMACOLOGICAL RESEARCH
(2023)
Article
Medicine, General & Internal
Antonio J. Vallejo-Vaz, Christophe A. T. Stevens, Alexander R. M. Lyons, Kanika I. Dharmayat, Tomas Freiberger, G. Kees Hovingh, Pedro Mata, Frederick J. Raal, Raul D. Santos, Handrean Soran, Gerald F. Watts, Marianne Abifadel, Carlos A. Aguilar-Salinas, Khalid F. Alhabib, Mutaz Alkhnifsawi, Wael Almahmeed, Fahad Alnouri, Rodrigo Alonso, Khalid Al-Rasadi, Ahmad Al-Sarraf, Nasreen Al-Sayed, Francisco Araujo, Tester F. Ashavaid, Maciej Banach, Sophie Beliard, Marianne Benn, Christoph J. Binder, Martin P. Bogsrud, Mafalda Bourbon, Krzysztof Chlebus, Pablo Corral, Kairat Davletov, Olivier S. Descamps, Ronen Durst, Marat Ezhov, Dan Gaita, Jacques Genest, Urh Groselj, Mariko Harada-Shiba, Kirsten B. Holven, Meral Kayikcioglu, Weerapan Khovidhunkit, Katarina Lalic, Gustavs Latkovskis, Ulrich Laufs, Evangelos Liberopoulos, Marcos M. Lima-Martinez, Jie Lin, Vincent Maher, A. David Marais, Winfried Maerz, Erkin Mirrakhimov, Andre R. Miserez, Olena Mitchenko, Hapizah Nawawi, Borge G. Nordestgaard, Andrie G. Panayiotou, Gyorgy Paragh, Zaneta Petrulioniene, Belma Pojskic, Arman Postadzhiyan, Katarina Raslova, Ashraf Reda, Zeljko Reiner, Fouzia Sadiq, Wilson Ehidiamen Sadoh, Heribert Schunkert, Aleksandr B. Shek, Mario Stoll, Erik Stroes, Ta-Chen Su, Tavintharan Subramaniam, Andrey V. Susekov, Myra Tilney, Brian Tomlinson, Thanh Huong Truong, Alexandros D. Tselepis, Anne Tybjaerg-Hansen, Alejandra Vazquez Cardenas, Margus Viigimaa, Luya Wang, Shizuya Yamashita, Lale Tokgozoglu, Alberico L. Catapano, Kausik K. Ray
Summary: This study characterized the adult population with heterozygous familial hypercholesterolaemia using data from the FHSC global registry, highlighting the challenges in prevention and management of the condition. Early detection and greater use of combination therapies are needed to reduce the global burden of familial hypercholesterolaemia.
Review
Health Care Sciences & Services
Luisa Silva, Nadeem Qureshi, Hasidah Abdul-Hamid, Stephen Weng, Joe Kai, Jo Leonardi-Bee
Summary: There is currently insufficient evidence to determine the most effective method of systematically identifying FH in non-specialist settings.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Health Care Sciences & Services
Matthew Jones, Ralph K. Akyea, Katherine Payne, Steve E. Humphries, Hasidah Abdul-Hamid, Stephen Weng, Nadeem Qureshi
Summary: This study determines the cost-effectiveness of six case-finding strategies for screening of electronic health records to identify index patients who have genetically confirmed monogenic FH in English primary care. FAMCAT2 was found to be the most cost-effective screening approach.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Gerald F. Watts, Samuel S. Gidding, Robert A. Hegele, Frederick J. Raal, Amy C. Sturm, Laney K. Jones, Mitchell N. Sarkies, Khalid Al-Rasadi, Dirk J. Blom, Magdalena Daccord, Sarah D. de Ferranti, Emanuela Folco, Peter Libby, Pedro Mata, Hapizah M. Nawawi, Uma Ramaswami, Kausik K. Ray, Claudia Stefanutti, Shizuya Yamashita, Jing Pang, Gilbert R. Thompson, Raul D. Santos
Summary: Familial hypercholesterolaemia (FH) is a preventable cause of premature coronary artery disease and death. This guidance article from the International Atherosclerosis Society provides a comprehensive overview of FH care that includes recommendations on the detection and management of patients with FH, as well as strategies to maximize implementation.
NATURE REVIEWS CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Julius L. Katzmann, Maximilian Lehmann, Adrienn Tuennemann-Tarr, Ira An Haack, Alexander Dressel, Winfried Marz, Ulrich Laufs
Summary: Cutaneous manifestations are only present in a minority of contemporary patients with FH, including the subgroup with monogenic FH mutations. Although rare, the cutaneous signs have value in terms of specificity. However, the clinical characteristics shared by the majority of FH patients may be better suited for screening purposes.
Article
Cardiac & Cardiovascular Systems
Nadeem Qureshi, Ralph Kwame Akyea, Brittany Dutton, Steve E. Humphries, Hasidah Abdul Hamid, Laura Condon, Stephen F. Weng, Joe Kai
Summary: By utilizing electronic case-finding and genetic testing in primary care, this intervention study was able to improve the identification of patients at risk of familial hypercholesterolaemia and target them for specialist assessment. The results showed that patients with FH-causing genetic variants had higher total cholesterol and low-density lipoprotein-cholesterol levels compared to those with other genetic test results.
Review
Pediatrics
M. Doortje Reijman, D. Meeike Kusters, Albert Wiegman
Summary: Familial hypercholesterolaemia is a common, dominantly inherited disease characterized by high LDL cholesterol levels and premature cardiovascular disease. Early identification and treatment are crucial to prevent cardiovascular disease and premature mortality. Current treatments for heterozygous and homozygous familial hypercholesterolaemia include lifestyle modifications, pharmacological options, and novel lipid-lowering therapies, with a focus on improving outcomes for patients with severe heterozygous cases or statin intolerance. Lipoprotein apheresis remains the most valuable therapy for homozygous cases, but new approaches may reduce the need for this invasive and expensive treatment.
LANCET CHILD & ADOLESCENT HEALTH
(2021)
Article
Medicine, General & Internal
Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo-Vaz, Kausik K. Ray, Handrean Soran, Tomas Freiberger, Stefano Bertolini, Mariko Harada-Shiba, Dirk J. Blom, Frederick J. Raal, Marina Cuchel
Summary: Patients with homozygous familial hypercholesterolaemia (HoFH) globally face issues of late diagnosis, under-treatment, and high risk of premature ASCVD. The use of multiple lipid-lowering therapy regimens is associated with lower LDL cholesterol levels and better outcomes. Significant global disparities exist in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival.
Review
Peripheral Vascular Disease
Mitchell Sarkies, Laney K. Jones, Jing Pang, David Sullivan, Gerald F. Watts
Summary: The implementation of implementation science theories, models and frameworks has identified gaps between evidence and practice in the detection and management of familial hypercholesterolaemia. Strategies to overcome these gaps, such as automated identification and training, have been evaluated. Clinical registries are key for monitoring and improving care.
CURRENT ATHEROSCLEROSIS REPORTS
(2023)
Review
Medicine, General & Internal
Nadeem Qureshi, Maria Luisa R. Da Silva, Hasidah Abdul-Hamid, Stephen F. Weng, Joe Kai, Jo Leonardi-Bee
Summary: Familial hypercholesterolaemia is a common inherited condition associated with premature cardiovascular disease, and early lipid-lowering therapy can prevent increased cardiovascular morbidity. However, established diagnostic criteria fail to identify the majority of patients, indicating the need for further research on healthcare intervention strategies.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2021)
Review
Biochemistry & Molecular Biology
Anastasia Poznyak, Larisa Litvinova, Paolo Poggio, Alexander N. Orekhov, Alexandra A. Melnichenko
Summary: Lipid metabolism alterations play a significant role in the development of atherosclerosis, and familial hypercholesterolaemia is a common cause associated with increased risk of atherosclerosis.
Article
Gastroenterology & Hepatology
Dominique Larrey, Laura D'Erasmo, Sallyann O'Brien, Marcello Arca, Italian Working Grp Lomitapide
Summary: This study aimed to assess the long-term hepatic safety of lomitapide and found that it is well tolerated with no clinically significant elevations in hepatic biomarkers and hepatic stiffness remained normal.
LIVER INTERNATIONAL
(2023)
Article
Cardiac & Cardiovascular Systems
Gerald F. Watts, David R. Sullivan, David L. Hare, Karam M. Kostner, Ari E. Horton, Damon A. Bell, Tom Brett, Ronald J. Trent, Nicola K. Poplawski, Andrew C. Martin, Shubha Srinivasan, Robert N. Justo, Clara K. Chow, Jing Pang
Summary: Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder that leads to cardiovascular diseases. Despite approximately 100,000 affected individuals in Australia, the majority remain undetected and untreated. Updated guidance has been provided to address the care of patients and families with FH, emphasizing the importance of detection, diagnosis, assessment, management, genetic testing, risk notification, and adherence to heart-healthy lifestyles.
HEART LUNG AND CIRCULATION
(2021)
Review
Biochemistry & Molecular Biology
Paul N. Durrington, Bilal Bashir, Deepak Bhatnagar, Handrean Soran
Summary: This review examines the role of lipoprotein (a) in familial hypercholesterolemia and its contribution to atherosclerotic cardiovascular disease (ASCVD) risk. The mechanisms behind the increased lipoprotein (a) levels in familial hypercholesterolemia are likely related to hepatic production and genetic factors. The extent to which lipoprotein (a) further increases ASCVD risk in this population is still controversial.
CURRENT OPINION IN LIPIDOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Jing Pang, David R. Sullivan, David L. Hare, David M. Colquhoun, Timothy R. Bates, Jacqueline D. M. Ryan, Warrick Bishop, John R. Burnett, Damon A. Bell, Leon A. Simons, Sam Mirzaee, Karam M. Kostner, Paul J. Nestel, Andrew M. Wilson, Richard C. O'Brien, Edward D. Janus, Peter M. Clifton, Justin J. Ardill, Dick C. Chan, Frank van Bockxmeer, Gerald F. Watts
Summary: Analysis of the FH Australasia Network registry revealed that patients are typically identified later in life, have a high burden of coronary artery disease, and do not achieve guideline-recommended LDL-cholesterol targets. Genetic and cascade testing are under-utilised, highlighting the need for improved care strategies as a public health priority.
HEART LUNG AND CIRCULATION
(2021)
Letter
Pathology
Aaron J. Frederiks, John R. Burnett, Gerald F. Watts, Sujith P. Kumarasinghe, Damon A. Bell
Article
Cardiac & Cardiovascular Systems
Gerald F. Watts, David R. Sullivan, David L. Hare, Karam M. Kostner, Ari E. Horton, Damon A. Bell, Tom Brett, Ronald J. Trent, Nicola K. Poplawski, Andrew C. Martin, Shubha Srinivasan, Robert N. Justo, Clara K. Chow, Jing Pang
Summary: Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder that leads to cardiovascular diseases. Despite approximately 100,000 affected individuals in Australia, the majority remain undetected and untreated. Updated guidance has been provided to address the care of patients and families with FH, emphasizing the importance of detection, diagnosis, assessment, management, genetic testing, risk notification, and adherence to heart-healthy lifestyles.
HEART LUNG AND CIRCULATION
(2021)
Review
Endocrinology & Metabolism
Nick S. R. Lan, Kharis Burns, Damon A. Bell, Gerald F. Watts
Summary: Dyslipidaemia is a major modifiable risk factor for ASCVD in type 2 diabetes patients. Recent trials have shown that ezetimibe and PCSK9 inhibitors are more beneficial for diabetes patients. International guidelines now recommend a more intensive approach to treating dyslipidaemia in diabetes patients.
CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY
(2021)
Article
Cardiac & Cardiovascular Systems
Nick S. R. Lan, Dick C. Chan, Jing Pang, P. Gerry Fegan, Bu B. Yeap, James M. Rankin, Carl J. Schultz, Gerald F. Watts, Damon A. Bell
Summary: Lipoprotein(a) and diabetes are both independently associated with premature coronary artery disease (pCAD), but there is a negative relationship between Lp(a) concentration and the risk of type 2 diabetes (T2D). This study found that in coronary care patients with pCAD, those with T2D had lower Lp(a) concentrations, but elevated Lp(a) was still predictive of pCAD in patients with T2D.
HEART LUNG AND CIRCULATION
(2021)
Article
Pediatrics
Andrew C. Martin, Amanda J. Hooper, Richard Norman, Lan T. Nguyen, John R. Burnett, Damon A. Bell, Tom Brett, Jacquie Garton-Smith, Jing Pang, Kristen J. Nowak, Gerald F. Watts
Summary: Universal screening of children aged 1-2 years for FH during immunisations was proven to be feasible, effective, and cost-effective in detecting FH cases among children, parents, and other relatives.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
(2022)
Article
Cardiac & Cardiovascular Systems
Anindita Chakraborty, Jing Pang, Dick C. Chan, Katrina L. Ellis, Amanda J. Hooper, Damon A. Bell, John R. Burnett, Eric K. Moses, Gerald F. Watts
Summary: This study investigated the detection of new cases of elevated Lp(a) during cascade testing of relatives of probands with a definite diagnosis of FH and elevated Lp(a). The findings suggest that a dual approach to cascade testing families for FH and high Lp(a) from appropriate probands can effectively identify new cases of FH and elevated Lp(a).
Letter
Cardiac & Cardiovascular Systems
Russell S. Wong, Nick S. R. Lan, James M. Rankin, Damon A. Bell, Girish Dwivedi
CORONARY ARTERY DISEASE
(2022)
Article
Cardiac & Cardiovascular Systems
Robert Larbalestier, Girish Dwivedi, Nick S. R. Lan, Umar S. Ali, Damon A. Bell
Summary: A retrospective analysis was conducted to determine the potential eligibility of coronary artery bypass graft (CABG) surgery patients for icosapent ethyl therapy. The study found that a substantial percentage of these patients may be eligible for the therapy and could potentially benefit from its cardiovascular protection. Further research should evaluate the additional cardiovascular benefits of icosapent ethyl in this high-risk group of patients who are already treated with high-intensity statins.
CARDIOVASCULAR REVASCULARIZATION MEDICINE
(2022)
Article
Pharmacology & Pharmacy
Michael M. Page, Katrina L. Ellis, Dick C. Chan, Jing Pang, Amanda J. Hooper, Damon A. Bell, John R. Burnett, Eric K. Moses, Gerald F. Watts
Summary: The rs1250229-T allele of the FN1 gene is inversely associated with CAD in patients with genetically confirmed FH, independently of traditional risk factors. This finding suggests that the biology of fibronectin may contribute to the variation in CAD risk in FH patients.
JOURNAL OF CLINICAL LIPIDOLOGY
(2022)
Review
Endocrinology & Metabolism
Nick S. R. Lan, Damon A. Bell, Gerald F. Watts, P. Gerry Fegan
Summary: This article discusses the recommendations for lipid-lowering therapy, management of hypertriglyceridemia, and potential barriers to optimal care in adults with type 1 diabetes (T1D). Low-density lipoprotein cholesterol (LDL-C) is the primary target for lipid-lowering, but international guidelines have differing approaches to ASCVD risk-stratification, lipid-lowering, and LDL-C goals in individuals with diabetes.
CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY
(2023)
Article
Pathology
Nicola Sawyer, Paul Glendenning, Samuel D. Vasikaran, Michael M. Page, Sze Ling Wong, Jun Yang, Markus P. Schlaich, Greg Van Schie, Damon A. Bell
Summary: The objective of this study was to determine the clinical and biochemical success rates of adrenalectomy in patients with unilateral primary aldosteronism (PA), subtyped by adrenal vein sampling (AVS), using the Primary Aldosteronism Surgical Outcome (PASO) criteria. Clinical and biochemical outcomes were evaluated retrospectively in patients who underwent adrenalectomy according to AVS between September 2017 and September 2020. Follow-up data were collected through questionnaires, clinic letter reviews, and examination of pathology and radiological reports. The results showed high clinical and biochemical success rates in patients who underwent adrenalectomy for unilateral PA in Western Australia, but further standardization of post-operative follow-up care is needed.
Meeting Abstract
Dermatology
Aaron Frederiks, Sujith Prasad Kumarasinghe, Damon Bell
AUSTRALASIAN JOURNAL OF DERMATOLOGY
(2022)
Article
Endocrinology & Metabolism
Elaine E. Sanderson, Mark Shah, Amanda J. Hooper, Damon A. Bell, Catherine S. Choong
Summary: This case report highlights a new diagnosis of diabetes associated with a heterozygous missense mutation in the insulin receptor (INSR) gene in an 11-year-old girl. It emphasizes the importance of genetic evaluation in atypical presentations of diabetes in children and adolescents, as INSR gene variants can be a cause of monogenic diabetes. The article also discusses the potential role of metformin in treating type A insulin resistance syndrome due to INSR gene variants.
ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS
(2022)
Correction
Cardiac & Cardiovascular Systems
Gerald F. Watts, David R. Sullivan, David L. Hare, Karam M. Kostner, Ari E. Horton, Damon A. Bell, Tom Brett, Ronald J. Trent, Nicola K. Poplawski, Andrew C. Martin, Shubha Srinivasan, Robert N. Justo, Clara K. Chow, Jing Pang
AMERICAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2022)