Journal ArticleDOI
Homozygous familial hypercholesterolaemia in Vietnam: Case series, genetics and cascade testing of families
Thanh Huong Truong,Thanh Huong Truong,Ngoc Thanh Kim,Ngoc Thanh Kim,M.N.T. Nguyen,Jing Pang,Amanda J. Hooper,Amanda J. Hooper,Gerald F. Watts,Gerald F. Watts,Doan Loi Do,Doan Loi Do +11 more
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TLDR
HoFH due to LDLR mutations is a severe disorder in Vietnam that needs early detection and treatment with LDL-cholesterol lowering drugs and Cascade testing of families allows effective detection of new cases of FH that may also benefit from early treatment.About:
This article is published in Atherosclerosis.The article was published on 2018-10-01. It has received 11 citations till now. The article focuses on the topics: Population & Genetic testing.read more
Citations
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Familial hypercholesterolaemia: a global call to arms
TL;DR: Familial Hypercholesterolaemia (FH) is the commonest autosomal inherited condition affecting man and it is caused by mutation in one of three genes, encoding the low-density lipoprotein======(LDL) receptor, or the gene for apolipoprotein B (which is the major protein component of the LDL particle), or in the gene======coding for PCSK9.
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Barriers and facilitators for cascade testing in genetic conditions: a systematic review.
TL;DR: Several individual, interpersonal and environmental factors may play a role in cascade testing, and future studies to further investigate these barriers and facilitators are needed to inform future interventions for improving the implementation of cascade testing for genetic conditions in clinical practice.
Journal ArticleDOI
Comparative aspects of the care of familial hypercholesterolemia in the ‘‘Ten Countries Study’’
Jing Pang,Dick C. Chan,Miao Hu,Lauretta A. Muir,See Kwok,Min Ji Charng,Min Ji Charng,Christopher M. Florkowski,Peter M. George,Jie Lin,Do Doan Loi,Do Doan Loi,A. David Marais,Hapizah Md Nawawi,Lourdes E. Gonzalez-Santos,Ta-Chen Su,Thanh Huong Truong,Thanh Huong Truong,Raul D. Santos,Handrean Soran,Brian Tomlinson,Shizuya Yamashita,Zanfina Ademi,Gerald F. Watts,Gerald F. Watts +24 more
TL;DR: Wider implementation of primary and pediatric care, telehealth services, patient support groups, education/training programs, research activities, and health technology assessments are needed to improve the care of patients with FH in countries of the Asia-Pacific region and Southern Hemisphere.
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PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
TL;DR: A large number of studies have focused on finding effective diagnostic and therapeutic methods based on PCSK9, one of the main pathogenic FH genes, whose contribution to FH deserves more explorative research.
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A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia.
TL;DR: Recent global evidence showing the utility of FH genetic testing across diverse populations was improved FH diagnosis, treatment initiation or continued treatment, treatment modification, improved total or LDL cholesterol levels, education on lifestyle management, and genetic counseling.
References
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Journal ArticleDOI
Estimation of the Concentration of Low-Density Lipoprotein Cholesterol in Plasma, Without Use of the Preparative Ultracentrifuge
TL;DR: A method for estimating the cholesterol content of the serum low-density lipoprotein fraction (Sf0-20) is presented and comparison of this suggested procedure with the more direct procedure, in which the ultracentrifuge is used, yielded correlation coefficients of .94 to .99.
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Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society
Børge G. Nordestgaard,M. John Chapman,Steve E. Humphries,Henry N. Ginsberg,Luis Masana,Olivier S. Descamps,Olov Wiklund,Robert A. Hegele,Frederick J. Raal,Joep C. Defesche,Albert Wiegman,Raul D. Santos,Gerald F. Watts,Klaus G. Parhofer,G. Kees Hovingh,Petri T. Kovanen,Catherine Boileau,Maurizio Averna,Jan Borén,Eric Bruckert,Alberico L. Catapano,Jan Albert Kuivenhoven,Jan Albert Kuivenhoven,P. Pajukanta,Kausik K. Ray,Anton F. H. Stalenhoef,Erik S.G. Stroes,Marja-Riitta Taskinen,Anne Tybjærg-Hansen +28 more
TL;DR: There is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition, familial hypercholesterolaemia.
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Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
Marina Cuchel,Eric Bruckert,Henry N. Ginsberg,Frederick J. Raal,Raul D. Santos,Robert A. Hegele,Jan Albert Kuivenhoven,Børge G. Nordestgaard,Olivier S. Descamps,Elisabeth Steinhagen-Thiessen,Anne Tybjærg-Hansen,Gerald F. Watts,Maurizio Averna,Catherine Boileau,Jan Borén,A.L. Catapano,Joep C. Defesche,G. Kees Hovingh,Steve E. Humphries,Petri T. Kovanen,Luis Masana,Päivi Pajukanta,Klaus G. Parhofer,Kausik K. Ray,Anton F. H. Stalenhoef,Erik S.G. Stroes,Marja-Riitta Taskinen,Albert Wiegman,Olov Wiklund,M. John Chapman +29 more
TL;DR: In this article, the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH.
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Familial Hypercholesterolaemia in Children and Adolescents: Gaining Decades of Life by Optimizing Detection and Treatment
Albert Wiegman,Samuel S. Gidding,Gerald F. Watts,M. John Chapman,Henry N. Ginsberg,Marina Cuchel,Leiv Ose,Maurizio Averna,Catherine Boileau,Jan Borén,Eric Bruckert,Alberico L. Catapano,Joep C. Defesche,Olivier S. Descamps,Robert A. Hegele,G. Kees Hovingh,Steve E. Humphries,Petri T. Kovanen,Jan Albert Kuivenhoven,Luis Masana,Børge G. Nordestgaard,Päivi Pajukanta,Klaus G. Parhofer,Frederick J. Raal,Kausik K. Ray,Raul D. Santos,Anton F. H. Stalenhoef,Elisabeth Steinhagen-Thiessen,Erik S.G. Stroes,Marja-Riitta Taskinen,Marja-Riitta Taskinen,Anne Tybjærg-Hansen,Olov Wiklund +32 more
TL;DR: This consensus paper aims to improve awareness of the need for early detection and management of FH children by recommending cascade screening of families using a combined phenotypic and genotypic strategy.
Journal ArticleDOI
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation
Gerald F. Watts,Samuel S. Gidding,Anthony S. Wierzbicki,Peter P. Toth,Peter P. Toth,Rodrigo Alonso,W. Virgil Brown,Eric Bruckert,Joep C. Defesche,Khoo Kah Lin,Michael Livingston,Pedro Mata,Klaus G. Parhofer,Frederick J. Raal,Raul D. Santos,Eric J.G. Sijbrands,William G. Simpson,David R. Sullivan,Andrey V. Susekov,Brian Tomlinson,Albert Wiegman,Shizuya Yamashita,John J.P. Kastelein +22 more
TL;DR: Recommendations on treatment are based on risk stratification, management of non-cholesterol risk factors, and safe and effective use of LDL lowering therapies, and the use of emerging therapies for FH is foreshadowed.