P647An audit of possible familial hypercholesterolaemia in general practice

Abstract

Abstract Background Familial hypercholesterolaemia (FH) is an autosomal dominant condition associated with elevated total cholesterol and low-density lipoprotein (LDL). It confers an increased risk of premature cardiovascular disease and associated mortality. It is estimated that the majority of patients with FH in Ireland are undiagnosed and structured care programmes are not available. Purpose To undertake an audit of those patients in a general practice with possible FH Methods A retrospective audit was carried out on the patients attending a GP practice. Inclusion criteria for the study were as follows: LDL level >4.9mmol/L Triglyceride level (<2mmol/L) Data was collected from the patients' clinical notes and patients were interviewed to acquire additional details not available in the clinical notes where possible. A Dutch Lipid Clinic Network Score (DLCNS) was calculated for each patient. Results Of 5,438 patients with a LDL recorded 284 patients fulfilled the inclusion criteria. 52.4% were female. Mean age 60 years old (range: 19–95 years). The highest LDL level recorded for these patients ranged from 5.0 - 8.6 mmol/L, with a mean value of 5.4 mmol/L. The mean most recent LDL level was 3.6mmol/L (range: 1.0–6.3 mmol/L). 42 patients (14.8%) had a family history of premature coronary and/or vascular disease in line with DLCNS criteria. 9 patients (3.2%) had a personal history of premature cardiovascular disease. The DLCNS was calculated for each patient based on the information available. 225 patients (79.2%) had a score of 3, 36 patients (12.7%) had a score of 4, 12 patients (4.2%) had a score of 5 and 6 patients (2.1%) had a score of 6. This equates to 273 patients (96.1%) with a possible diagnosis of FH, and 6 patients (2.1%) with a probable diagnosis of FH. The mean most recent systolic blood pressure reading for these patients was 128mmHg, and diastolic 76mmHg. 51 patients (18%) were current smokers, 83 (29.2%) were ex-smokers, and 111 (39%) had never smoked. Smoking status was unknown for 38 patients (13.4). 128 patients (45%) were on lipid-lowering treatment at the time of this audit. 60 (21.1%) were on high intensity treatment, 68 (23.9%) were on medium intensity treatment and none were on low intensity treatment. 24.3% of patients were at target LDL. There were 5 patients (1.8%) currently receiving ezetimibe and 1 (0.4%) on fenofibrate. Conclusion A significant number of patients had a LDL >5mmol/l in this audit. Only 45% were on lipid lowering treatment and 24.3% were at a target LDL. This highlights the needs for structured programmes for screening and management of FH in primary care. Acknowledgement/Funding Funded by an unrestricted grant from Amgen