Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

@article{UmansEckenhausen2001ReviewOF,
  title={Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands},
  author={Marina A W Umans-Eckenhausen and Joep C. Defesche and Eric J.G. Sijbrands and R L Scheerder and John J Kastelein},
  journal={The Lancet},
  year={2001},
  volume={357},
  pages={165-168}
}
Parental attitude towards genetic testing for familial hypercholesterolaemia in children
TLDR
Nationwide screening for familial hypercholesterolaemia, using family investigation and molecular testing, has been operative in The Netherlands since 1994 and patients are diagnosed on the basis of carriership of one of the 159 different LDL receptor gene mutations causing FH that have been identified in Dutch patients to date.
What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
TLDR
DNA testing, as an adjunct to the measurement of plasma low-density lipoprotein cholesterol levels, has clinical utility in providing an unequivocal diagnosis in patients and in identifying affected relatives at an early age so that they can be offered lifestyle advice and appropriate lipid-lowering therapies.
The genetics and screening of familial hypercholesterolaemia
TLDR
The genetic basis of familial hypercholesterolaemia is discussed, examining the distribution of variants known to be associated with the condition across the exons of the genes LDLR, ApoB, PCSK9 and LDLRAP1.
Preventing cardiovascular disease: a review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand.
TLDR
FH diagnostic services in New Zealand appear significantly underdeveloped thereby denying affected people the opportunity of early treatment to reduce the risk of premature cardiovascular events.
Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance
In The Netherlands, cascade screening to identify patients with familial hypercholesterolaemia (FH) has been introduced in 1994; a nationwide screening programme is currently ongoing to detect all -
Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance
In The Netherlands, cascade screening to identify patients with familial hypercholesterolaemia (FH) has been introduced in 1994; a nationwide screening programme is currently ongoing to detect all –
Improving the yield of genetic testing in familial hypercholesterolaemia
TLDR
This editorial refers to ‘Development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia’, by J. Besseling et al.
Familial hypercholesterolaemia
TLDR
Lifelong LDL cholesterol-lowering treatment substantially improves CVD-free survival and longevity and additional drugs, such as ezetimibe, bile acid sequestrants, PCSK9 inhibitors and other emerging therapies, are often required.
Diagnosing familial hypercholesterolaemia: the relevance of genetic testing.
TLDR
The findings suggest that among those without an LDLR mutation, patients with other causes of dyslipidaemia may be present, and underline the relevance of genetic testing in FH for clinical practice, for screening purposes, and for research involving these patients.
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References

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DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia
TLDR
Screening of hyperlipidemic Afrikaner individuals for specific founder‐related LDLR gene mutations can provide a definite diagnosis of FH, which may lead to better counselling and optimal treatment.
Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population.
TLDR
The data suggest that, in children, a persistent primary increase in LDL cholesterol associated with a parental history of hyperlipidemia is a good predictor of an underlying monogenic disorder as opposed to a polygenic disorder, at least in French-Canadians.
Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa
TLDR
Plasma cholesterol levels overlapped considerably between the different groups, suggesting that modifiable lifestyle factors remain important in children with FH and the potential diagnostic value of mutation screening in a pediatric population with an enrichment of particular gene mutations is demonstrated.
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands
TLDR
The data indicate that an estimate of the prevalence of specific mutations, as well as the compilation of a database of all FH‐causing mutations in a given country, can facilitate selection of the most appropriate molecular diagnostic approach.
Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia.
TLDR
The disorder was clinically indistinguishable from familial hypercholesterolemia in terms of physical characteristics and lipoprotein measures and response to lipid-lowering therapy with beta-hydroxy-beta-methylglutaryl coenzyme A reductase inhibitors was similar to that reported in patients with familialhypercholesterolesmia.
Neonatal diagnosis of familial hypercholesterolemia in newborns born to a parent with a molecularly defined heterozygous familial hypercholesterolemia.
TLDR
P phenotypic expression of heterozygous FH, as defined by molecular analysis of genomic DNA, is evident in serum LDL-C (but not HDL-C) levels already at birth, but for diagnostic purposes blood lipid determinations carried out at the age of 1 year are highly superior to those performed at birth.
Pediatric implications of heterozygous familial hypercholesterolemia. Screening and dietary treatment.
TLDR
The early detection and treatment of FH offers the optimal approach to the prevention of premature coronary artery disease.
Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.
The serum cholesterol concentrations of 134 children aged 1-16 years who had at least one first-degree relative with presumed familial hypercholesterolaemia showed a bimodal distribution, and, using
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