Interpretative comments specifically suggesting specialist referral increase the detection of familial hypercholesterolaemia.
Familial hypercholesterolaemia (FH) is an under-diagnosed inherited condition characterised by elevated low density lipoprotein (LDL)-cholesterol and premature coronary artery disease. The requesting general practitioner of individuals with extremely elevated LDL-cholesterol measured by St John of God Pathology receives an interpretative comment on the lipid results highlighting possible FH. We sought to determine whether specifically recommending referral to the regional Lipid Disorders Clinic (LDC) increased referral and FH detection rates. A prospective case-control study of individuals with LDL-cholesterol ≥6.5 mmol/L was conducted. All individuals received an interpretative comment highlighting the possibility of FH. The cases comment also suggested LDC referral, and a subset of cases received the LDC's fax number (fax-cases) in addition. There were 231 individuals with an LDL-cholesterol ≥6.5 mmol/L; 96 (42%) controls and 135 (58%) cases, of which 99 were fax-cases. Twenty-four (18%) cases were referred to clinic compared with eight (8%) controls (p = 0.035). After specialist review and genetic testing, four probable and four definite FH individuals were detected amongst controls, compared with seven possible, eight probable and nine definite FH amongst cases. Genetic testing was performed in 31 (94%) individuals, 13 (42%) had a causative mutation identified. Interpretative commenting specifically recommending specialist review augments the detection of FH in the community.
Cardiometabolic Service, Royal Perth Hospital, Perth, WA, Australia.
Robert
R
Bender
Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Perth, WA, Australia.
Glenn
G
Edwards
Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Perth, WA, Australia.
Jenny
J
McMahon
Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, WA, Australia; School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.
Amanda J
AJ
Hooper
Cardiometabolic Service, Royal Perth Hospital, Perth, WA, Australia; School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
Gerald F
GF
Watts
Cardiometabolic Service, Royal Perth Hospital, Perth, WA, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, WA, Australia; School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
John R
JR
Burnett
Cardiometabolic Service, Royal Perth Hospital, Perth, WA, Australia; Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Perth, WA, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, WA, Australia; School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia. Electronic address: damon.bell@health.wa.gov.au.
Damon A
DA
Bell
D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005260:Female; D058005:General Practitioners; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D012017:Referral and Consultation; D012107:Research Design
Familial hypercholesterolaemia; interpretative commenting; laboratory; screening