Screening for potential familial hypercholesterolaemia in general practice; Management and potentials

Background: Familial Hypercholesterolaemia (FH) is a common genetic disorder causing premature cardiovascular disease (CVD). The estimated prevalence of probable or definite FH according to the Dutch Lipid Clinic Network (DLCN) Criteria for FH is 1:200-250 individuals. In Denmark approximately 12% are identified. Aim: To provide knowledge of the prevalence and management of FH in general practice. Design and setting: A collaboration between six General Practitioners and the department of cardiology, Bispebjerg hospital. Methods: We screened 9,652 patient records for hypercholesterolaemia. All patients with an LDL-C ≥ 5.0 mmol/L were included in the study population and their record were investigated in order to perform a diagnostic score according to the DLCN criteria. Results: 2,382 individuals had a lipid measurement available, and 236 of those had an LDL-C ≥ 5.0 mmol/L. In total 34 individuals were found to have probable or definite FH (DLCN score ≥ 5). Only three individuals had been diagnosed and treated with lipid lowering therapy. Of 236 individuals with high LDL-C only 25 individuals met their treatment target. By excluding patients with signs of secondary hypercholesterolaemia we established a subgroup of 115 individuals with potential primary hypercholesterolaemia. Among those, 21 individuals were found to have probable or definite FH (1:114 individuals). Conclusion: Our study shows that there is a massive lack of recognition of FH in general practice. Despite a measured high LDL-C, the diagnosis is rarely made and only few patients are treated accordingly. Of the patients undergoing treatment, only a few reaches their treatment target.

The prevalence and patient outcomes of adult primary hypercholesterolaemia and dyslipidaemia in the UK: a longitudinal retrospective study using a primary care dataset from 2008 to 2018

Background Cardiovascular disease (CVD) remains the leading cause of death and morbidity in Europe and United Kingdom (UK). Increased low-density lipoprotein cholesterol (LDL-C), implicated in primary hypercholesterolaemia and mixed dyslipidaemia (PH/MD), is an extensively studied risk factor, with proven direct and linear causality of CVD. Lowering LDL-C remains a primary goal in the treatment and prevention of atherosclerotic CVD. Objectives This study aimed to quantify adult prevalence and incidence of PH/MD in the UK. Methods We used an anonymised dataset covering primary care practices across the UK, accessed through the Clinical Practice Research Datalink (CPRD GOLD). Ethics approval was sought and provided (Protocol 19_238R). Using a validated set of clinical codes as well as pre-treatment lipid profile levels for total cholesterol (TC) (>8 mmol/L), LDL-C (>4.9 mmol/L), we calculated prevalent and new adult cases starting from 2009 to 2018. Our denominator population was the CPRD GOLD GP-registered adult population each calendar year, adjusted for mortality. Results There were 1,514,916 adults in the CPRD GOLD GP register for the period from 2009 to 2018. During that period there were 354,444 patients diagnosed with PH/MD. Males comprised 46.5%, mean age on diagnosis was 58.2 years. Mean follow-up time was 104 months. The annual prevalence of PH/MD increased from 2009 to 2019 (see graph). The overall prevalence across the period was 22.7%. Mean annual incidence across the decade was 1.7%. Mean LDL-C levels were 4.7 mmol/L and mean TC level was 6.8 mmol/L. In this cohort, 15.9% experienced cardiovascular events (see table). Nearly all patients have used lipid lowering therapies. Only 2.2% achieved at least 40% reduction of LDL-C from baseline. Conclusions The prevalence of PH/MD has been increasing despite the availability of interventions. Considering guidelines, only a small proportion of patients have achieved LDL-C goals. Est prevalence of PH/MD in the UK Funding Acknowledgement Type of funding source: Private company. Main funding source(s): Daiichi Sankyo Europe, Health iQ Ltd