Gaps in the Care of Familial Hypercholesterolaemia in Australia: First Report From the National Registry

Background

Familial hypercholesterolaemia (FH) is under-diagnosed and under-treated worldwide, including Australia. National registries play a key role in identifying patients with FH, understanding gaps in care and advancing the science of FH to improve care for these patients.

Methods

The FH Australasia Network has established a national web-based registry to raise awareness of the condition, facilitate service planning and inform best practice and care services in Australia. We conducted a cross-sectional analysis of 1,528 FH adults enrolled in the registry from 28 lipid clinics.

Results

The mean age at enrolment was 53.4±15.1 years, 50.5% were male and 54.3% had undergone FH genetic testing, of which 61.8% had a pathogenic FH-causing gene variant. Only 14.0% of the cohort were family members identified through cascade testing. Coronary artery disease (CAD) was reported in 28.0% of patients (age of onset 49.0±10.5 years) and 64.9% had at least one modifiable cardiovascular risk factor. The mean untreated LDL-cholesterol was 7.4±2.5 mmol/L. 80.8% of patients were on lipid-lowering therapy with a mean treated LDL-cholesterol of 3.3±1.7 mmol/L. Among patients receiving lipid-lowering therapies, 25.6% achieved an LDL-cholesterol target of <2.5 mmol/L without CAD or <1.8 mmol/L with CAD.

Conclusion

Patients in the national FH registry are detected later in life, have a high burden of CAD and risk factors, and do not achieve guideline-recommended LDL-cholesterol targets. Genetic and cascade testing are under-utilised. These deficiencies in care need to be addressed as a public health priority.

Introduction

Familial hypercholesterolaemia (FH) is a high-risk condition characterised by elevated plasma low-density lipoprotein (LDL) cholesterol levels that predisposes individuals to premature coronary artery disease (CAD) [1]. FH has been defined by the Centers for Disease Control and Prevention as a Tier 1 genomic application [2], meaning that it is a preventable cause of premature disease and death with significant potential for a positive impact on public health [2]. FH has an estimated prevalence of 1 in 250 in the general population [3] and 1 in 20 among those with premature CAD [4]. There are an estimated 100,000 individuals with FH in Australia with the vast majority undiagnosed; thus FH is a public health priority.

In 2011, the FH Australasia Network (FHAN) of the Australian Atherosclerosis Society developed a comprehensive model of care for FH which encompasses detection of cases, diagnosis and assessment, management, cascade testing, genetic testing and clinical services for FH [5]. However, this model of care still requires extensive implementation in Australia. A crucial component of the model of care was to deploy a national web-based FH registry [6]. Registries capture real-world clinical practice data that are important not only to raise overall awareness of FH, but also for garnering information for health service planning and for clinical trials, as a means for improving the quality of patient care and outcomes [7,8].

Launched in 2015 in collaboration with FHAN, the Office of Population Health Genomics (Government of Western Australia) and the Centre for Comparative Genomics (Murdoch University) [6], the national FH registry now has an extensive network of clinical sites across Australia [9]. We aimed to describe the characteristics, detection and management patterns of adult FH patients enrolled in the national FH registry to highlight contemporary health care gaps that need to be addressed.