Establishing the validity of a case-finding tool to identify patients with familial hypercholesterolaemia


Establishing the validity of a case-finding tool to identify patients with familial hypercholesterolaemia

What is the aim of the study and why is it important?

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 is the research being 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

Location of research


Date on which research approved


Project reference ID


Are all data accessed are in anonymised form?


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

Funding Source

NIHR School for Primary Care Research

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



  • 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

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