title: Can patients be accurately assessed for familial hypercholesterolaemia in primary care?
abstract: OBJECTIVE
  Familial Hypercholesterolaemia (FH) is the most prevalent monogenic condition causing premature coronary artery disease, although the majority of individuals remain undiagnosed. We sought to investigate whether individuals with FH could be accurately identified in primary care.
  
  
  METHODS
  The Dutch Lipid Clinic Network Criteria scores (DLCNCS) assessed by general practitioners (GPs) were compared with DLCNCS assessed by specialists using primary care data in 153 individuals. Thirty individuals with DLCNCS ≥4 underwent specialist review and genetic testing. Clinical FH was defined as DLCNCS ≥6, encompassing the probable and definite FH categories.
  
  
  RESULTS
  GPs correctly classified 39 (86.7%) individuals with 'clinical FH', and 32 (94%) with 'unlikely FH' relative to specialists. Lin's concordance correlation coefficient was high (0.832 (0.783 - 0.881), p< 0.001) between specialist and GPs, with an overall agreement of 83.6%, κ 0.744 (0.642 - 0.831). After specialist review, 15 individuals (50%) were diagnosed with clinical FH, four (26.7%) had FH mutations. GPs correctly classified 12 (80%) of these individuals with clinical FH.
  
  
  CONCLUSIONS
  GPs can accurately identify individuals at high and low risk of FH using the DLCNCS, which may augment opportunistic FH detection in the community. Increased education may enhance the diagnostic accuracy of FH in primary care.
authors: School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Cardiometabolic Service, Department of Internal Medicine, Royal Perth Hospital, Perth, Australia; Familial Hypercholesterolaemia Western Australia (FHWA), Royal Perth Hospital, Perth, Australia; Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia. Electronic address: damon.bell@health.wa.gov.au.
authors: Damon A
authors: DA
authors: Bell
authors: School of Primary, Aboriginal and Rural Health Care, University of Western Australia, Perth, Australia.
authors: Andrew B
authors: AB
authors: Kirke
authors: School of Primary, Aboriginal and Rural Health Care, University of Western Australia, Perth, Australia.
authors: Rita
authors: R
authors: Barbour
authors: Familial Hypercholesterolaemia Western Australia (FHWA), Royal Perth Hospital, Perth, Australia.
authors: Lynda
authors: L
authors: Southwell
authors: School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Familial Hypercholesterolaemia Western Australia (FHWA), Royal Perth Hospital, Perth, Australia.
authors: Jing
authors: J
authors: Pang
authors: School of Medicine & Pharmacology, University of Western Australia, Perth, Australia.
authors: Sally
authors: S
authors: Burrows
authors: School of Medicine & Pharmacology, University of Western Australia, Perth, Australia; Cardiometabolic Service, Department of Internal Medicine, Royal Perth Hospital, Perth, Australia; Familial Hypercholesterolaemia Western Australia (FHWA), Royal Perth Hospital, Perth, Australia.
authors: Gerald F
authors: GF
authors: Watts
mesh_terms: D004502:Education, Medical, Continuing; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011320:Primary Health Care
keywords: Diagnostic accuracy; Familial Hypercholesterolaemia; Preventative cardiology; Primary care; Screening