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Published on: September 15, 2018
Screening for familial hypercholesterolaemia
Robert Bender1, Damon A Bell, Amanda J Hooper
1Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Perth, Western Australia, Australia.
Insights
Familial hypercholesterolaemia (FH) is a genetic disorder causing high LDL cholesterol, increasing heart disease risk. Cascade screening is effective for identifying FH cases, but awareness among medical practitioners is crucial for early intervention.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Public Health
Background:
- Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder.
- It leads to elevated low-density lipoprotein (LDL) cholesterol levels.
- This significantly increases the risk of atherosclerosis, premature coronary heart disease (CHD), and death.
Purpose of the Study:
- To highlight the underdiagnosis and undertreatment of FH in Australia.
- To discuss various screening strategies for FH.
- To emphasize the importance of medical practitioner awareness for successful FH identification and management.
Main Methods:
- Clinical diagnosis based on personal/family history, physical examination, and LDL-cholesterol levels.
- Genetic analysis identifying mutations in LDLR, APOB, and PCSK9 genes.
- Evaluation of screening options: population, targeted, opportunistic, and cascade screening.
Main Results:
- An estimated 80% of FH cases remain undiagnosed in Australia.
- The majority of diagnosed FH patients are inadequately treated.
- Cascade screening is identified as an ethically acceptable and cost-effective strategy.
Conclusions:
- Increased awareness of FH signs, diagnosis, and treatment benefits among medical practitioners is essential.
- Early intervention through effective screening can delay or prevent CHD onset in FH patients.
- Targeted screening, particularly cascade screening, offers a viable approach to improve FH diagnosis rates.
Abstract:
Familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by increased plasma concentrations of low density lipoprotein (LDL) cholesterol leading to atherosclerosis and premature coronary heart disease (CHD) and death. The clinical diagnosis of FH is based on a personal and family history, physical examination findings and LDL-cholesterol concentrations. FH is primarily caused by mutations in the LDL-receptor gene (LDLR), and less frequently by mutations in genes for APOB and the more recently identified PCSK9. Lifestyle modification and pharmacotherapy can delay or prevent the onset of CHD in FH. It is estimated that only 20% of cases have been diagnosed in Australia and that the majority are inadequately treated. Screening options for FH include population screening (of children or adults), targeted screening of patients with premature CHD and their relatives, or opportunistic screening such as flagging laboratory lipid reports. Cascade screening, a form of targeted screening, is an ethically acceptable, cost-effective strategy for the identification of FH. However, for screening to be successful, medical practitioners need to be aware of the signs and diagnosis of FH and the benefits of early treatment.
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