June 2025
Rural GP-based study finds familial hypercholesterolaemia underdiagnosed and undertreated
By Melanie Hinze
A retrospective study of five rural GP clinics in South Australia has revealed significant underdiagnosis and undertreatment of patients likely to have familial hypercholesterolaemia (FH).
Published in Heart, Lung and Circulation, researchers examined electronic health records (EHR) in the five rural clinics for 165 patients identified as having cholesterol levels above 7.5mmol/L – suggestive of FH. They found that it was not possible to fully calculate the Dutch Lipid Clinic Network Scores (DLCNS), used to assess the likelihood of FH, because physical examination findings of hyperlipidaemia, family histories and family lipid studies were often incompletely recorded. They therefore classified patients according to LDL-cholesterol (LDL-C) levels: as definite, probable, possible, unlikely and non-FH.
Only 25% of patients were receiving any lipid-lowering therapy (LLT), and just 5% achieved target LDL-C levels (<2.5mmol/L). Among those treated, most were prescribed moderate-dose statins alone, with only 5% receiving ezetimibe cotherapy.
Most patients fell into the ‘possible’ or ‘probable’ FH categories based on LDL-C levels, yet treatment rates were similar across all groups, including those deemed ‘unlikely’ to have FH.
The study highlighted poor documentation of family history (recorded in only 22% of patients) and no records of physical signs of hyperlipidaemia, such as tendon xanthomas or arcus senilis.
The authors recommended that a comprehensive national strategy for detecting FH through EHR be established, noting that most practices now used appropriate software and novel machine learning algorithms were increasingly becoming available. They also said creating a Medicare item for EHR would greatly assist FH identification.
‘Reasons for suboptimal therapy in general practice need to be addressed, particularly in rural and remote communities, aiming for better implementation of absolute risk management guidelines,’ the authors concluded.
Professor Gerald Watts, Winthrop Professor of Cardiometabolic Medicine at the University of Western Australia’s School of Medicine and Consultant Physician at Royal Perth Hospital’s Cardiometabolic Service, Perth, said, ‘First-stage screening for FH using EHR has been previously reported.’
He said this should be combined with other methods of detection, particularly confirmation of the diagnosis genetically and cascade testing of close blood relatives of an index case with FH.
‘Integration, implementation and sustainability of all these approaches and efficient risk reduction remain the main challenges,’ Professor Watts told Medicine Today.
Heart Lung Circ 2025; https://doi.org/10.1016/j.hlc.2025.03.004.