Queensland familial hypercholesterolaemia clinic outcomes analysis

Abstract

Background: Consensus guidelines exist for the diagnosis, treatment and management of Familial Hypercholesterolaemia (FH) in childhood. We review the practical outcomes of preventative intervention from a state-wide paediatric FH clinic. Methods: Prospective assessments included response to treatment, review of side-effects, carotid intima-media thickness (CIMT) and echocardiography at appropriate intervals. Of the 26 clinic patients, 24 had full datasets for lipid profiles including initial response and late follow-up. 14 had CIMT measurements early and at late follow-up. Results: Presentation was predominantly in asymptomatic children from cascade screening. All patients had phenotypically confirmed FH with elevated low-density lipoprotein (LDL-C) levels (>4.0 mmol/L) and a significant family history. The cohort was 63% male with diagnosis occurring at median age of 12.7 years (range 4.8-16.8). 4 patients had concurrent type 1 diabetes mellitus. Statin treatment was commenced at median age of 13.0 years (range 8.0-16.8) and followed guidelines. At diagnosis mean total cholesterol (TC) was 8.2 mmol/L (CI 0.6) and mean LDL-C was 6.1 mmol/L (CI 0.5). Initial post-therapy levels were TC 5.6 mmol/L (CI 0.3) ( =31% reduction, CI 4%) and LDL-C of 3.7 mmol/L (CI 0.4) (= 39% reduction, CI 4%). These reductions were maintained at median follow-up of 3.5 years (range 1.1-9.2) with TC 5.7 mmol/L (CI 0.5) (=29% reduction, CI 6%) and LDL-C 3.9 mmol/L (CI 0.5) (= 35% reduction, CI 6%). Targeted dose escalation was required in 45% of patients. 8 children changed medications with 6 due to documented mild side-effects, which all resolved. During follow-up Left-CIMT (n= 14) was reduced from 0.52mm (CI 0.04) to 0.48mm (CI 0.02). (All reported results p< 0.05). Conclusion: We demonstrated that early intervention has the potential to improve lipid levels and CIMT, both of which are associated with cumulative lifetime risk-reduction. A large proportion of unrecognised and untreated paediatric patients must exist based on known incidence of FH of >1:500.L6200754002018-01-09 <br />