title: Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia.
abstract: OBJECTIVE
  To highlight the unmet need for identifying individuals with familial hypercholesterolaemia and exploring the implications that this will have for local and national healthcare services.
  
  
  RESULTS
  A pathway utilising DNA testing for the diagnosis of familial hypercholesterolaemia, and subsequent cascade testing has been developed in Wales.
  
  
  CONCLUSIONS
  Undiagnosed familial hypercholesterolaemia carries a high risk of cardiovascular disease, which is easily preventable with pharmacotherapy, if individuals are appropriately diagnosed, and affected family members identified. The use of DNA testing is cost-effective and allows for efficient cascade testing. This has implications for local services and highlights unmet educational and clinical requirements in clinical lipidology.
authors.affiliation: Cardiff and Vale University Health Board, Cardiff, UK.
authors.forename: Borunendra N
authors.initials: BN
authors.lastname: Datta
authors.forename: Ian F W
authors.initials: IF
authors.lastname: McDowell
authors.forename: Alan
authors.initials: A
authors.lastname: Rees
mesh_terms: D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000378:metabolism; D050356:Lipid Metabolism; D008055:Lipids; D008403:Mass Screening / Q000379:methods*; D008511:Medicine
chemical_list: D008055:Lipids