Familial Hypercholesterolaemia (FH) is a common inherited cause of raised cholesterol, affecting up to 320,000 people in the UK. It has been well-established the individuals with FH have an increased risk of premature coronary heart disease. This risk of heart disease can be dramatically reduced by starting medicines to lower cholesterol levels. However, there is currently not enough information on whether FH is related to other major cardiovascular outcomes, such as stroke and peripheral vascular disease.
There is a growing need for better protocols for FH identification and management in the UK and internationally as currently over 80% of people with FH are still not identified. Thus, policy-makers are now updating guidelines and cost-effectiveness models for FH identification and management. However, all previous cost-effectiveness models have only included outcomes related to heart disease. In order to inform the updated cost-effectiveness models, we need to urgently determine whether other cardiovascular outcomes need to be included in these models. This study will inform us if FH increases, and by how much, the risk of all serious cardiovascular conditions by using a large population-based general practice database (CPRD) comparing FH patients to non-FH patients. The outputs of this study will directly inform new economic models for FH identification and management.
Background: Untreated heterozygous familial hypercholesterolaemia dramatically increases risk of coronary heart disease. There is currently limited evidence on whether FH is also associated with stroke (CVA), and other non-CHD/non-CVA cardiovascular diseases.
Objectives: The aim of this study is to determine the incidence and risk of all cardiovascular outcomes for patients with familial hypercholesterolaemia compared to patients without FH.
Study Design: Matched cohort study
Setting: UK General Practice
Participants: All patients with a recorded cholesterol (LDL or TC), without history of CVD at baseline, registered with general practice for at least one year before study entry
Exposures: (i) Definite FH – Those diagnosed with FH identified by Read Code for definitive “familial hypercholesterolaemia” (ii) Likely FH – No definitive diagnosis but meet established clinical criteria
Comparator: Non-FH general population with LDL or TC recorded (+/- 6 months) at the time of diagnosis of FH in the exposed group: matched (by age, gender, general practice at baseline) one exposed patient (definite FH or likely FH) to at least 3 unexposed non-FH patients
Stephen Weng - Chief Investigator - University of Nottingham
Stephen Weng - Corresponding Applicant - University of Nottingham
Barbara Iyen - Collaborator - University of Nottingham
Beth Woods - Collaborator - University of York
Jo Leonardi-Bee - Collaborator - University of Nottingham
Nadeem Qureshi - Collaborator - University of Nottingham
paul roderick - Collaborator - University of Southampton
HES Admitted Patient Care;HES Outpatient;ONS Death Registration Data;Patient Level Index of Multiple Deprivation