FAMCAT and TARB-Ex – harmonising approaches to Familial Hypercholesterolaemia in primary care

Talk Code: 
P2.56
Presenter: 
Tom Brett and Nadeem Qureshi
Co-authors: 
Tom Brett1, Nadeem Qureshi2, Diane Arnold-Reed1, Stephen Weng2, Joe Kai2, Gerald Watts3
Author institutions: 
1 General Practice and Primary Health Care Research Unit, School of Medicine (Fremantle), University of Notre Dame Australia, 2 Primary Care Stratified Medicine Research Group, Division of Primary Care, University of Nottingham, 3 School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia

Problem

Familial Hypercholesterolaemia (FH) is an autosomal dominant disorder that causes accelerated onset of premature cardiovascular disease. Of the estimated 120,000 with FH in the UK and 45, 000 in Australia and New Zealand, most remain undetected and undertreated. Electronic screening of general practice patient records can help to rapidly identify those at highest risk. We compare different approaches from the UK and Australia.

Approach

To electronically screen for patients at highest risk of FH in general practice and to improve identification and management in the primary care setting.

Findings

In Western Australia to date, electronic screening using TARB-Ex identified 439 patients at potential risk or with an existing FH diagnosis from 63,206 patients (approximately 17,067 with cholesterol measurements) on 5 general practice databases. GPs then reviewed the medical records followed by clinical assessment to establish a phenotypic diagnosis using the Dutch Lipid Clinic Network Criteria (DLCNC). Patients with DLCNC scores ≥6 (diagnosed as having FH) were managed within the primary care setting with Lipid Specialist help available for more difficult and complex cases.An independent, parallel study in the UK is screening general practice computer records using FAMCAT. Thus far, from searches of 13 practices, 80,370 patients with cholesterol measurements have been identified, of which 17.211 (21.4%) have been identified as having high risk of FH. In addition, 27,400 patients have a family history of myocardial infarction documented, but this does not specify premature onset. No practice has recorded patients screened by Simon-Broome or Dutch Lipid Clinic criteria. Similarities and differences between the two approaches will be discussed.

Consequences

The UK and Australian approaches both show potential for FH management to become embedded and sustainable and part of GP care into the future. They align with the increasing international drive for primary care management of chronic conditions and use of precision medicine.

Submitted by: 
Diane Arnold-Reed
Funding acknowledgement: 
The Western Australian study is funded by Sanofi-Aventis Australia Pty Ltd under an Investigator Sponsored Study (ISS) Agreement (DIREGL07823) and the Collaborative Research Network (CRN) Grant to The University of Notre Dame Australia. The UK study is funded by NIHR, School of Primary Care Research.