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Published on: March 6, 2012
Gaps in the Care of Familial Hypercholesterolaemia in Australia: First Report From the National Registry
Jing Pang1, David R Sullivan2, David L Hare3
1School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia.
Insights
Familial hypercholesterolaemia (FH) patients in Australia are diagnosed late and have high rates of cardiovascular disease. Underutilization of genetic and cascade testing highlights significant gaps in care that require urgent public health attention.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Public Health
Background:
- Familial hypercholesterolaemia (FH) is a prevalent genetic disorder characterized by extremely high LDL-cholesterol levels, significantly increasing the risk of premature cardiovascular disease.
- Despite its impact, FH remains under-diagnosed and under-treated globally, necessitating robust national strategies for identification and management.
- National patient registries are crucial for understanding disease burden, identifying care gaps, and advancing research to improve patient outcomes.
Purpose of the Study:
- To analyze the characteristics and care gaps of patients with Familial hypercholesterolaemia (FH) within Australia.
- To evaluate the utilization of genetic and cascade testing in FH diagnosis and management.
- To identify key areas for public health intervention to improve FH patient care.
Main Methods:
- A cross-sectional analysis was performed on 1,528 adult patients diagnosed with FH, enrolled in a national web-based registry.
- Data were collected from 28 lipid clinics across Australia, including patient demographics, genetic testing status, cardiovascular disease history, risk factors, and lipid levels.
- Statistical analysis was used to describe the cohort and identify trends in diagnosis, treatment, and outcomes.
Main Results:
- The average age of FH patients at enrollment was 53.4 years, with 50.5% being male. Only 14.0% were identified through cascade testing.
- A significant proportion (28.0%) had established coronary artery disease (CAD), with a mean age of onset at 49.0 years. 64.9% had at least one modifiable cardiovascular risk factor.
- Mean untreated LDL-cholesterol was 7.4 mmol/L. While 80.8% received lipid-lowering therapy, only 25.6% achieved guideline-recommended LDL-cholesterol targets.
Conclusions:
- Patients in the Australian FH registry are diagnosed late, presenting with a substantial burden of cardiovascular disease and risk factors.
- Underutilization of genetic and cascade testing indicates significant deficiencies in current FH care pathways.
- Addressing these gaps in diagnosis and treatment is a critical public health priority to reduce cardiovascular morbidity and mortality in FH patients.
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.
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