The evaluation of cascade testing for familial hypercholesterolemia

@article{Morris2012TheEO,
  title={The evaluation of cascade testing for familial hypercholesterolemia},
  author={Joan K. Morris and David S. Wald and Nicholas J. Wald},
  journal={American Journal of Medical Genetics Part A},
  year={2012},
  volume={158A}
}
Familial hypercholesterolemia (FH) is an autosomal dominant disorder with a high risk of coronary heart disease at a young age that can be reduced by cholesterol‐lowering drugs. Computer simulation was used to estimate the screening performance of three strategies of cascade testing for FH (a process of searching for relatives with FH once an individual is diagnosed with FH): (i) testing parents, siblings, and children (1st degree relatives) of an FH index case, (ii) testing (i) and testing 1st… 
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63 Citations
Background Citations
18
Methods Citations
4
Results Citations
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63 Citations

Citation Type

Citation Type

Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: an Australian experience.
Familial Hypercholesterolaemia in the Era of Genetic Testing
TLDR
Further work is required to evaluate the cardiovascular disease risk in patients with genetically diagnosed FH and to determine whether a risk-based approach to the treatment of FH is appropriate.
Reaching detection targets in familial hypercholesterolaemia: Comparison of identification strategies.
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.
Improving the detection of familial hypercholesterolaemia.
Prevention of Atherosclerotic Cardiovascular Disease in Children with Familial Hypercholesterolemia
TLDR
Identifying youth with FH offers the opportunity for early intervention to prevent ASCVD and identify affected relatives through reverse cascade screening.
Homozygous familial hypercholesterolaemia in Vietnam: Case series, genetics and cascade testing of families.
Clinical management of familial hypercholesterolemia: new insights from international guidelines and recent studies
TLDR
Current, let alone future, therapies are extremely effective in reducing both LDL-C and CVD events in patients with FH, which should be a feature of preventative CVD medicine programmes.
Cascade screening based on genetic testing is cost-effective: evidence for the implementation of models of care for familial hypercholesterolemia.
Genotype-guided diagnosis in familial hypercholesterolemia: population burden and cascade screening
  • P. Hopkins
  • Medicine
    Current opinion in lipidology
  • 2017
TLDR
How genetic testing has provided major new insights regarding the population burden of familial hypercholesterolemia (FH) is reviewed and the role of genetic testing in cascade screening for FH and an updated MEDPED algorithm for the clinical diagnosis of FH are presented.
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References

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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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