title: Detecting familial hypercholesterolaemia in the community: impact of a telephone call from a chemical pathologist to the requesting general practitioner.
abstract: OBJECTIVE
  To determine whether a telephone call from a chemical pathologist to the requesting general practitioner (GP) of individuals at high risk of familial hypercholesterolaemia (FH) increases specialist referral and detection of FH.
  
  
  METHODS
  Individuals with an LDL-cholesterol ≥ 6.5 mmol/L without secondary causes were identified from a community laboratory; 100 cases and 96 historical controls. All laboratory reports (cases and controls) received interpretative comments highlighting FH. In addition, the cases' GPs received a telephone call from the chemical pathologist to highlight their patient's risk of FH and suggest specialist referral, whereas with the controls' GPs were not telephoned.
  
  
  RESULTS
  After 12 months follow-up, 27 (27%) cases were referred to clinic compared with 4 (4%) controls (p < 0.0001). 25 cases were reviewed at clinic, 12 (48%) had definite FH and 18 (72%) had probable or definite FH according to the Dutch Lipid Clinic Network Criteria, 2 cases did not attend their clinic appointments. Genetic testing was performed in 23 individuals: 7 (30%) had pathogenic FH mutations. Genotypic cascade screening of 4 kindreds from the intervention group detected an additional 7 individuals with FH and excluded 5 mutation-negative family members.
  
  
  CONCLUSIONS
  A telephone call from a chemical pathologist to the requesting GP of patients at high risk of FH was associated with significantly higher rates of FH detection and specialist referral. Over 70% of individuals with an LDL-cholesterol ≥ 6.5 mmol/L were diagnosed with FH. However, further investigation is required to improve the relatively low referral rate.
authors.affiliation: School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia; Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Department of Internal Medicine, Royal Perth Hospital, Perth, Australia. Electronic address: damon.bell@health.wa.gov.au.
authors.forename: Damon A
authors.initials: DA
authors.lastname: Bell
authors.affiliation: School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia.
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Hooper
authors.affiliation: Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Australia.
authors.forename: Glenn
authors.initials: G
authors.lastname: Edwards
authors.affiliation: Familial Hypercholesterolaemia Western Australia Program, University of Western Australia, Perth, Australia.
authors.forename: Lynda
authors.initials: L
authors.lastname: Southwell
authors.affiliation: Familial Hypercholesterolaemia Western Australia Program, University of Western Australia, Perth, Australia.
authors.forename: Jing
authors.initials: J
authors.lastname: Pang
authors.affiliation: Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia; School of Surgery, University of Western Australia, Perth, Australia.
authors.forename: Frank M
authors.initials: FM
authors.lastname: van Bockxmeer
authors.affiliation: School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Department of Internal Medicine, Royal Perth Hospital, Perth, Australia.
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.affiliation: School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia.
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001291:Attitude of Health Personnel; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D008078:Cholesterol, LDL / Q000097:blood*; D003153:Community Health Services; D005260:Female; D058005:General Practitioners; D020022:Genetic Predisposition to Disease; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D033183:Interdisciplinary Communication; D008297:Male; D008875:Middle Aged; D010338:Pathology, Clinical; D010641:Phenotype; D011237:Predictive Value of Tests; D012017:Referral and Consultation; D018570:Risk Assessment; D012307:Risk Factors; D013689:Telephone; D015854:Up-Regulation; D014904:Western Australia; D055815:Young Adult
chemical_list: D015415:Biomarkers; D008078:Cholesterol, LDL
keywords: Community laboratory; Detection; Familial hypercholesterolaemia; Opportunistic screening