The genetics and screening of familial hypercholesterolaemia

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to elevated blood cholesteroland a dramatically increased risk of atherosclerosis. It is perceived as a rare condition. However it affects 1 in 250 ofthe population globally, making it an important public health concern. In communities with founder effects, higherdisease prevalences are observed. We discuss the genetic basis of familial hypercholesterolaemia, examining the distribution of variants known to be associated with the condition across the exons of the genes LDLR, ApoB, PCSK9 and LDLRAP1. We also discuss screening programmes for familial hypercholesterolaemia and their cost-effectiveness. Diagnosis typically occurs using one of the Dutch Lipid Clinic Network (DCLN), Simon Broome Register (SBR) or Make Early Diagnosis to Prevent Early Death (MEDPED) criteria, each of which requires a different set of patient data. New cases can be identified by screening the family members of an index case that has been identified as a result of referral to a lipid clinic in a process called cascade screening. Alternatively, universal screening may be used whereby a population is systematically screened. It is currently significantly more cost effective to identify familial hypercholesterolaemia cases through cascade screening than universal screening. However, the cost of sequencing patient DNA has fallen dramatically in recent years and if the rate of progress continues, this may change.
LanguageEnglish
JournalJournal of Biomedical Science
Volume23
Issue number39
DOIs
Publication statusPublished - 16 Apr 2016

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Hyperlipoproteinemia Type II
Genetic Testing
Founder Effect
Lipids
Costs and Cost Analysis
Inborn Genetic Diseases
Apolipoproteins B
DNA Sequence Analysis
Population
Cost-Benefit Analysis
Early Diagnosis
Exons
Atherosclerosis
Referral and Consultation
Public Health
Genes

Keywords

  • Familial hypercholesterolaemia
  • FH
  • cascade screening
  • screening
  • cholesterol
  • universal screening
  • atherosclerosis
  • CVD
  • CHD

Cite this

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title = "The genetics and screening of familial hypercholesterolaemia",
abstract = "Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to elevated blood cholesteroland a dramatically increased risk of atherosclerosis. It is perceived as a rare condition. However it affects 1 in 250 ofthe population globally, making it an important public health concern. In communities with founder effects, higherdisease prevalences are observed. We discuss the genetic basis of familial hypercholesterolaemia, examining the distribution of variants known to be associated with the condition across the exons of the genes LDLR, ApoB, PCSK9 and LDLRAP1. We also discuss screening programmes for familial hypercholesterolaemia and their cost-effectiveness. Diagnosis typically occurs using one of the Dutch Lipid Clinic Network (DCLN), Simon Broome Register (SBR) or Make Early Diagnosis to Prevent Early Death (MEDPED) criteria, each of which requires a different set of patient data. New cases can be identified by screening the family members of an index case that has been identified as a result of referral to a lipid clinic in a process called cascade screening. Alternatively, universal screening may be used whereby a population is systematically screened. It is currently significantly more cost effective to identify familial hypercholesterolaemia cases through cascade screening than universal screening. However, the cost of sequencing patient DNA has fallen dramatically in recent years and if the rate of progress continues, this may change.",
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The genetics and screening of familial hypercholesterolaemia. / Watterson, Steven; McGilligan, Victoria.

In: Journal of Biomedical Science, Vol. 23, No. 39, 16.04.2016.

Research output: Contribution to journalArticle

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AB - Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to elevated blood cholesteroland a dramatically increased risk of atherosclerosis. It is perceived as a rare condition. However it affects 1 in 250 ofthe population globally, making it an important public health concern. In communities with founder effects, higherdisease prevalences are observed. We discuss the genetic basis of familial hypercholesterolaemia, examining the distribution of variants known to be associated with the condition across the exons of the genes LDLR, ApoB, PCSK9 and LDLRAP1. We also discuss screening programmes for familial hypercholesterolaemia and their cost-effectiveness. Diagnosis typically occurs using one of the Dutch Lipid Clinic Network (DCLN), Simon Broome Register (SBR) or Make Early Diagnosis to Prevent Early Death (MEDPED) criteria, each of which requires a different set of patient data. New cases can be identified by screening the family members of an index case that has been identified as a result of referral to a lipid clinic in a process called cascade screening. Alternatively, universal screening may be used whereby a population is systematically screened. It is currently significantly more cost effective to identify familial hypercholesterolaemia cases through cascade screening than universal screening. However, the cost of sequencing patient DNA has fallen dramatically in recent years and if the rate of progress continues, this may change.

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