Clinical Management of Children and Young Adults with Heterozygous Familial Hypercholesterolaemia in the UK

Greene, Owen; Durrington, Paul N.

doi:10.1177/014107680409700505

Cited by 5 publications

(2 citation statements)

References 21 publications

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“…There was a greater reluctance to treat girls of the same age (52% and 12%, respectively). 40 The efficacy and tolerability of pravastatin therapy in real-life setting was demonstrated to be similar to that in randomised controlled studies in 185 children, who were followed up for a mean duration of 2 years 2 months. 41 Two other placebo-controlled studies evaluated the probable adverse effects of lovastatin on adolescent familial hypercholesterolaemia patients.…”

Section: Discussionsupporting

confidence: 53%

“…A survey among physicians in 169 lipid clinics revealed that in boys aged 10–15 years 65% of physicians were prepared to treat with bile acid sequestrants, but only 23% with statins. There was a greater reluctance to treat girls of the same age (52% and 12%, respectively) 40 . The efficacy and tolerability of pravastatin therapy in real-life setting was demonstrated to be similar to that in randomised controlled studies in 185 children, who were followed up for a mean duration of 2 years 2 months 41 .…”

Section: Discussionmentioning

confidence: 75%

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Treatment of familial hypercholesterolaemia in children and adolescents in the last three decades

2013

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Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 75%

Treatment of familial hypercholesterolaemia in children and adolescents in the last three decades

2013

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Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement

Medeiros

Alves

Bourbon

2016

Genetics in Medicine

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Purpose: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism caused by mutations in LDLR, APOB, and PCSK9. To fulfill the World Health Organization recommendation, the Portuguese FH Study was established. Here, we report the results of the past 15 years and present practical considerations concerning the genetic diagnosis of FH based on our experience. Methods:Our approach comprises a biochemical and molecular study and is divided into five phases, including the study of whole APOB and functional assays.Results: A total of 2,122 individuals were enrolled. A putative pathogenic variant was identified in 660 heterozygous patients: LDLR (623), APOB (33), and PCSK9 (4); 8 patients presented with homozygous FH. A detection rate of 41.5% was observed. A stricter biochemical criteria was shown to improve patient identification. Overall, we have identified 3.4% and 80% of all heterozygous and homozygous patients, respectively, estimated to exist in our country. Conclusion:The Portuguese FH Study has established the genetic diagnosis of FH in Portugal and is committed to continue the investigation of the genetic complexity of FH. Genetic diagnosis of FH should be expanded to include the study of all coding/flanking regions of APOB and functional in vitro studies, to improve the correct patient identification, and to avoid misdiagnosis.

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Implementation of cascade testing for the detection of familial hypercholesterolaemia

Hadfield

Humphries

2005

Current Opinion in Lipidology

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Current data support the implementation of cascade testing for familial hypercholesterolaemia as being feasible and cost-effective, but national implementation is limited to a small number of countries. Funding and the infrastructure to support it may be the major stumbling blocks in implementing this technique in many countries. Concerns about the ethics of carrying out cascade testing, and the potential psychological damage of DNA testing, appear to have been largely addressed for familial hypercholesterolaemia.

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Clinical Management of Children and Young Adults with Heterozygous Familial Hypercholesterolaemia in the UK

Cited by 5 publications

References 21 publications

Treatment of familial hypercholesterolaemia in children and adolescents in the last three decades

Treatment of familial hypercholesterolaemia in children and adolescents in the last three decades

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement

Implementation of cascade testing for the detection of familial hypercholesterolaemia

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