Aim:
Familial hypercholesterolaemia (FH) is a dominantly inherited genetic disorder with an estimated population prevalence 1/200 – 1/300. This disease results in congenitally elevated LDL cholesterol levels and, if untreated, severe and premature cardiovascular disease. Given its relationship with cardiovascular disease, FH is likely to be over-represented in patients presenting to hospitals with coronary artery disease. Despite this, there has been little research into the prevalence of this severe but treatable condition within an Australian population. The aim of this study was to assess the prevalence of FH within a population of coronary artery disease patients.

Methods:
This cross-sectional study assessed consecutive patients < 70 years old presenting to Austin Health from February-June 2018. Patients were included if they presented with: acute coronary syndromes, elective coronary angiography requiring percutaneous intervention or coronary artery bypass graft surgery. FH was diagnosed via the Dutch Lipid Clinic Network score. Other cardiovascular risk factors (hypertension, diabetes, smoking status, elevated lipoprotein(a)) were also recorded. The Wilcoxon rank-sum test was used to analyse continuous variables and Fisher’s exact text was used to analyse categorical variables.

Results:
214 patients were assessed within this time period with 177 included for analysis. 19 patients were diagnosed with “definite” or “probable” FH, resulting in an estimated prevalence of 10.7% (95% CI 6.6% - 16.3%). 94.7% of patients with FH were taking statins prior to assessment. The prevalence of FH rose to 17.7% (95% confidence interval 10.0% - 27.9%) in patients less than 60yo.

Conclusions:
This study has demonstrated the over-representation of FH in this population. Its high prevalence and association with significant morbidity and mortality indicates a recommendation for routine screening. Diagnosis allows referral to specialist lipidology for appropriate treatment and cascade screening of undiagnosed family members.

04 - THE PREVALENCE OF FAMILIAL HYPERCHOLESTEROLAEMIA IN PATIENTS PRESENTING WITH CLINICAL CORONARY ARTERY DISEASE