Status
Completed
Title
Establishing the validity of a case-finding tool to identify patients with familial hypercholesterolaemia
What were the objectives of the study?
Familial Hypercholesterolaemia (FH) is a common inherited cause of raised cholesterol, affecting up to 320,000 people in the UK. However, over 80% of people with the condition are still not identified, leading to many avoidable heart attacks and early deaths. The risk of heart disease can be dramatically reduced by starting medicines to lower cholesterol levels
We have developed a new tool to better identify people with familial hypercholesterolaemia. This uses information from general practice computer records, and is called a familial hypercholesterolaemia case-ascertainment tool (or ‘FAMCAT’ for short).We now need to test how valid and accurate FAMCAT is in predicting familial hypercholesterolaemia by testing it in a separate and large medical research database.
How was the research done?
We will be using data provided by a very large medical research database called QResearch. This contains anonymised medical records of patients from 1500 English and 3 Scottish general practices. These medical records will tell us whether the criteria in the FAMCAT is accurate for identifying patients with familial hypercholesterolaemia.
We will publish the findings so the public can benefit from knowing how valid FAMCAT is. It will also help us identify any improvements that can be made to FAMCAT to further enhance its accuracy for use in health care.
Chief Investigator
Stephen Weng
Lead Applicant Organisation Name
Sponsor
Nottingham
Location of research
Nottingham
Date on which research approved
01-Sep-2016
Project reference ID
R94
Generic ethics approval reference
18/EM/0400
Are all data accessed are in anonymised form?
Yes
Brief summary of the dataset to be released (including any sensitive data)
men and women aged 16-10 with cholesterol measurements between 1999 and 2017.
GP data included age; sex; cholesterol and triglyceride values, diagnoses and family history of hyper-cholesterolaemia; ethnicity; medical diagnoses for cardiovascular disease, peripheral vascular disease; stroke; diabetes; kidney disease; prescriptions for cholesterol lowering drugs
What were the main findings?
A sample of 750 000 patients who registered in 1500 UK primary care practices that contribute anonymised data to the QResearch database between Jan 1, 1999, and Sept 1, 2017, was randomly selected, of which 747 000 patients were assessed. FAMCAT showed a high degree of discrimination (AUROC 0·832, 95% CI 0·820–0·845), which was higher than that of Simon Broome criteria (0·694, 0·681–0·703), Dutch Lipid Clinic Network criteria (0·724, 0·710–0·738), MEDPED criteria (0·624, 0·609–0·638), and screening cholesterol concentrations higher than the 99th percentile (0·581, 0·570–0·591). Using a 1 in 500 probability threshold, FAMCAT achieved a sensitivity of 84% (1028 predicted vs 1219 observed cases) and specificity of 60% (443 949 predicted vs 745 781 observed non-cases), with a corresponding positive predictive value of 0·84% and a negative predictive value of 99·2%.
Funding Source
NIHR School for Primary Care Research
Public Benefit Statement
Research Team
Dr Stephen Weng, University of Nottingham Co-investigators: Professor Nadeem Qureshi, University of Nottingham Professor Joe Kai, University of Nottingham Ralph Akyea, University of Nottingham
Date on which research was approved
01.09.2016
Publications
-
Detection of familial hypercholesterolaemia: external validation of the FAMCAT clinical case-finding algorithm to identify patients in primary care
Authors: Weng S, Kai J, Akyea R, Qureshi N
Ref: Lancet Public Health 2019; 4; e256-64
http://www.thelancet.com/retrieve/pii/S2468266719300611
Access Type
Trusted Research Environment (TRE)