Endocrine Abstracts

Objective: The NHS long term plan aims to identify 25% of the Familial Hypercholesterolaemia (FH) patients in England by 2025. This study aimed to identify patients with FH, assess their classification according to the Dutch Lipid Clinic Network (DLCN) criteria, and evaluate treatment outcomes.

Methods: We conducted a retrospective analysis of patients referred for assessment of possible FH who went on to have genetic testing.

Results: The study cohort included 26 patients between 2019 and 2022 (16 females and 10 males) with a mean age of 46 ± 13 years. Among the total 26 patients, the following characteristics were noted: eight were smokers (30.8%), five were drank alcohol (19.2%), one had a history of myocardial infarction prior to the first visit (3.8%), two had hypertension (7.7%), and one had type 2 diabetes (3.8%). According to the DLCN criteria, 12 patients (46.2%) were classified as definite familial hypercholesterolemia (FH), 5 patients (19.2%) as probable FH, and 9 patients (34.6%) as possible FH. Subsequent genetic testing confirmed FH in 14 out of the 26 patients, representing a FH positivity rate of 53.8%. Among the 14 patients with a positive FH gene result, the treatments are as follows: 13 patients (85.7%) on statin, 4 patients (28.6%) on ezetimibe, 3 patients (21.4%) on PCSK9 inhibitors. One patient was intolerant to any cholesterol-lowering agents and was referred to tertiary centre for consideration of plasmapheresis. Additionally, 4 out of the 14 patients had mild coronary atheroma on CT angiogram. The baseline and final lipid profile (median + SD) of the 14 patients were total cholesterol 8.49±1.19 and 6.1±1.37 mmol/l, LDL 6.9±0.93 and 3.85±1.49 mmol/l, HDL 1.25±0.33 and 1.1±0.31mmol/l.

Conclusion: FH gene was positive in more than 50% of patients. The NICE recommended target LDL reduction >50% was achieved in 57%.