Endocrine Abstracts

Familial Hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterised by elevated LDL-C, with a UK prevalence of 1 in 250–500. It significantly increases the risk of myocardial infarction, stroke, and early cardiovascular disease (CVD). This audit evaluated whether FH identification and PCSK9 inhibitor (PCSK9i) prescribing at the lipid clinic align with NICE guidelines CG71 and TA393. A retrospective review of electronic medical records of patients attending lipid clinic was conducted, and it was found that 201 patients with 96 genetically confirmed and 105 clinically possible FH. Among the patients with suspected FH, 96% had documented Simon Broome or DLCN criteria in the electronic medical record. The 8 patients (4%) who didn’t have it mainly were referred from different hospitals with confirmed FH genetic testing reports. Genetic testing was offered to 99% of eligible patients, aligning closely with the 100% standard. Therapeutically, 91% (20/22) of those prescribed PCSK9i met NICE eligibility criteria. One patient was incorrectly prescribed based on secondary prevention targets, and another had a clinical decision due to a strong family history of premature CVD. The overall mean LDL-C reduction was 45%, and 51% achieved a ≥ 50% LDL-C reduction from baseline. The audit shows strong adherence to diagnostic documentation and genetic testing, reinforcing good clinical practices. However, PCSK9i prescribing fell slightly short, highlighting the importance of compliance due to the high cost (£4,383 per patient annually) and the need for cost-effective prescribing. While the hospital covers around 1.5 million population, an estimated 3,000–6,000 individuals may have FH, underscoring the need for enhanced community screening and genetic testing availability at national level. Key recommendations include improving documentation, ensuring stringent PCSK9i prescribing in line with NICE criteria, optimizing referral pathways, and re-auditing within 12 months.