GP clinics could be enlisted to help identify patients unknowingly at risk of a premature heart attack and early death due to an inherited condition, a Department of Health-funded study has found.
The newly published research found that GP clinics could not only play a pivotal role in identifying patients with the condition familial hypercholesterolaemia (FH), but also in managing their ongoing treatment.
Lead researcher and Notre Dame Professor of General Practice Research, Tom Brett said FH was a lifelong condition in which the liver’s ability to remove low-density lipoprotein cholesterol (LDL-cholesterol) – commonly known as ‘bad cholesterol’ – from the blood was severely impaired, increasing the patient’s risk of premature coronary heart disease.
Professor Brett said that based on FH’s occurrence in about one in 250 people, about 100,000 Australians were estimated to have the disorder but only around 10,000 of those had been diagnosed.
“That means about 90,000 Australians – many of them children and young adults – are oblivious to their condition and probably not getting the vital treatment they need,” he said.
Given FH is present from birth, the earlier we can start treating it the better our ability to delay and prevent the development of coronary artery disease.
Professor Brett’s three-year investigation explored the feasibility and effectiveness of having general practice screen patients for FH and then treat those for whom a diagnosis was confirmed.
The project involved more than 230,000 patients from 15 GP practices across Australia.
Initial screening of patients was via their medical records – first via an electronic tool, then via a GP clinical review.
Those flagged as high-risk were then recalled for an appointment with their GP who performed a detailed assessment for FH based on an established set of clinical criteria.
Of the 556 patients who underwent the clinical assessment, 147 were considered to have a clinical diagnosis of FH, 133 consented to joining the study and 77 undertook follow-up checks for their condition.
At the end of the study, many of these patients had at least halved their LDL-cholesterol level, with some (16%) achieving their optimal target.
Professor Brett said that because of the hereditary nature of FH, from the 77 cases who went on to be treated as part of the study, a further 359 first- and second-degree relatives were identified as potentially warranting FH testing due to their close relationship to the initial “index” case.
He revealed that most patients with FH were picked up following the diagnosis in a close family member and that the family member was often only diagnosed following a heart attack or other coronary event.
“Our study has shown that screening using medical record review, followed by clinical assessment, provides an effective, timely and ‘real-world’ means of detecting potential FH patients”, Professor Brett said.
“These patients can then be evaluated further and, if subsequently diagnosed, will be able to access treatment early when it can make the greatest difference.”
Professor Brett said the approach could enable the early identification of family members who could also be at risk.
“This is critical because without treatment, a person with FH can develop coronary artery disease by the time they are in their early thirties or forties and many will go on to have heart attacks, some of them fatal.”
Professor Brett’s study was supported by funding from the Department of Health.
The online tool used in Dr Brett’s study (TARB-Ex) was developed by Dr Brett and colleagues at The University of Notre Dame, Fremantle, and is available free to General Practitioners using Best Practice Software.
The Department of Health’s Assistant Director General Clinical Excellence Division, Dr James Williamson said Dr Brett’s study was an example of the excellent research underway in Western Australia that could significantly improve the health and wellbeing of patients both here and around the world.
