Child–Parent Familial Hypercholesterolemia Screening in Primary Care
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TLDR
Child-parent screening was feasible in primary care practices at routine child immunization visits and 8 persons were identified as having positive screening results for familial hypercholesterolemia and were consequently at high risk for cardiovascular disease.Abstract:
BackgroundChild–parent screening for familial hypercholesterolemia has been proposed to identify persons at high risk for inherited premature cardiovascular disease. We assessed the efficacy and feasibility of such screening in primary care practice. MethodsWe obtained capillary blood samples to measure cholesterol levels and to test for familial hypercholesterolemia mutations in 10,095 children 1 to 2 years of age during routine immunization visits. Children were considered to have positive screening results for familial hypercholesterolemia if their cholesterol level was elevated and they had either a familial hypercholesterolemia mutation or a repeat elevated cholesterol level 3 months later. A parent of each child with a positive screening result for familial hypercholesterolemia was considered to have a positive screening result for familial hypercholesterolemia if he or she had the same mutation as the child or, if no mutations were identified, had the higher cholesterol level of the two parents. Re...read more
Citations
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Journal ArticleDOI
Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018.
Liam R. Brunham,Isabelle Ruel,Sumayah Aljenedil,Jean-Baptiste Rivière,Alexis Baass,Alexis Baass,Jack V. Tu,G.B. John Mancini,Paolo Raggi,Milan Gupta,Patrick Couture,Glen J. Pearson,Jean Bergeron,Gordon A. Francis,Brian W. McCrindle,Katherine M. Morrison,Julie St-Pierre,Mélanie Henderson,Robert A. Hegele,Jacques Genest,Jacques Genest,Jeannette Goguen,Daniel Gaudet,Guillaume Paré,Jacques Romney,Thomas Ransom,Sophie Bernard,Pamela M. Katz,Tisha R. Joy,David Bewick,James M. Brophy,James M. Brophy +31 more
TL;DR: An update of the 2014 Canadian Cardiovascular Society position statement on FH addressing the need for case identification, prompt recognition, and treatment with statins and ezetimibe, and cascade family screening and a new Canadian definition for FH and tools for clinicians to make a diagnosis are provided.
Journal ArticleDOI
Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK.
Marion Kerr,Robert Pears,Z. Miedzybrodzka,Kate Haralambos,M. Cather,Melanie Watson,Steve E. Humphries +6 more
TL;DR: Cascade testing of relatives of those with suspected FH is highly cost effective, and Europe-wide high levels of undiagnosed FH, and associated morbidity and mortality, mean adoption of cascade services should yield substantial quality of life and survival gains.
Journal ArticleDOI
Genetic Architecture of Familial Hypercholesterolaemia.
TL;DR: New genotyping methods such as next-generation sequencing will provide a better understanding of the genetic architecture of FH and its impact on the clinical presentation, as well as the management of patients based on their underlying genetic factors.
Journal ArticleDOI
Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis.
TL;DR: An ambitious meta-analysis of 13 independent studies, including a total of 1907 people with FH and 16,221 controls, presents clear age-related differences in the ability to distinguish between affected and unaffected individuals based upon serum cholesterol measurements.
Journal ArticleDOI
Familial hypercholesterolemia and elevated lipoprotein(a): double heritable risk and new therapeutic opportunities
Alpo Vuorio,Gerald F. Watts,Gerald F. Watts,W. J. Schneider,Sotirios Tsimikas,Petri T. Kovanen +5 more
TL;DR: If outcome trials of novel Lp(a)‐lowering therapies prove to be safe and cost‐effective, they will provide additional risk reduction needed to effectively treat HeFH and potentially lower the CVD risk in these high‐risk patients even more than currently achieved with LDL‐C lowering alone.
References
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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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First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS).
TL;DR: The matching criteria were gestation (using an ultrasound crown–rump length or biparietal diameter measurement), duration of storage, and centre, and Screening performance of the individual markers and combinations of markers together with maternal age was assessed.
Journal ArticleDOI
Efficacy and safety of statin therapy in Children with familial hypercholesterolemia: A randomized controlled trial
Albert Wiegman,Barbara A. Hutten,Eric de Groot,Jessica Rodenburg,Henk D. Bakker,Harry R. Büller,Eric J.G. Sijbrands,John J.P. Kastelein +7 more
TL;DR: Two years of pravastatin therapy induced a significant regression of carotid atherosclerosis in children with familial hypercholesterolemia, with no adverse effects on growth, sexual maturation, hormone levels, or liver or muscle tissue.
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Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication
Marianne Benn,Gerald F. Watts,Anne Tybjærg-Hansen,Børge G. Nordestgaard,Børge G. Nordestgaard +4 more
TL;DR: The prevalence of familial hypercholesterolemia appears to be higher than commonly perceived in a general population of white Danish individuals, with at least half of affected subjects not receiving cholesterol-lowering medication.
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