Interpretative comments specifically suggesting specialist referral increase the detection of familial hypercholesterolaemia

SummaryFamilial 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.