Endocrine Abstracts

Introduction: Familial Hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipid metabolism. Affected children have elevated cholesterol from birth with accelerated atherosclerosis and significant cardiovascular disease (CVD) from the third decade. 1 in 250 people are affected and early treatment can eliminate the risk of premature CVD. Genetic testing guidance was published in August 2008 and a CVD outcomes strategy was produced in 2013. From 2014 the British Heart Foundation began to fund specialist FH nurses.

Service report: A formal regional paediatric service was established at University Hospital Southampton in 2014, encompassing a consultant, dietician and specialist nurse. 118 children and young people have been identified with FH since then, with increasing numbers year by year. Average age at referral is 9.3 years (4 months to 16 years); almost all are referred by nurse specialists via the cascade screening program. In our cohort average LDL-cholesterol at diagnosis was 4.9 mmol/l (1.6–9). LDLR variants were identified in 70%, APoB variants were identified in 20% and PCSK9 variants in 3% (remainder polygenic or unknown). All children were offered diet and lifestyle advice with face to face input from a specialist dietician. At the time of this review, 57 children are on statin therapy, this was initiated in 14 children before 10 years of age. Statin treatment led to a LDL-cholesterol fall of 46% (6.15–3.31 mmol/l) for children under 10 years and for those older than 10 years: 40% (5.52–3.34 mmol/l). 86% of young people on treatment are on atorvastatin monotherapy; the majority are on 10 mg. Only one child changed medication due to side-effects.

Conclusions: In our experience, effective control of cholesterol levels can usually be achieved on low doses of statin with good tolerance. The creation of a formal sub-speciality paediatric service has aided diagnosis and started to standardise care, optimising long-term health outcomes. However, detection rates remain low with approximately only 10–15% of local cases diagnosed so far. In light of the significant health impact of this condition, we believe population screening needs to be considered to improve identification and early treatment.