Familial hypercholesterolaemia: challenges in primary care

Familial hypercholesterolaemia remains largely unrecognised and undertreated in Australian primary care. A new approach involving increased awareness, early detection, lifelong treatment and cascade testing of relatives is essential to improve outcomes of patients with this disorder. Key Points Familial hypercholesterolaemia (FH) is a relatively common inherited disorder of high cholesterol levels. FH can lead to atherosclerosis, premature coronary artery disease and early death if left untreated. Cascade testing of relatives of patients with FH is cost- effective and necessary as one in two will have the condition. Innovations in primary care can improve FH detection in the community. An integrated approach to FH detection involving GPs, specialists and pathology laboratories is recommended. Primary care teams are well positioned to provide a sustainable approach to FH diagnosis and management but greater awareness of this condition is needed

Challenges in the care of familial hypercholesterolemia: a community care perspective

Familial hyperchoelsterolaemia (FH) remains under-diagnosed and under-treated in the community setting. Earlier evidence suggested prevalence of 1:500 worldwide but newer evidence suggests it is more common. Less than 15% of FH patients are ever diagnosed with children and young adults rarely tested despite having most to gain given their lifetime exposure. Increasing awareness among primary care teams is critical to improve detection profile for FH. Cascade testing in the community setting needs a sustainable approach to be developed to facilitate family tracing of index cases. The use of the Dutch Lipid Clinic Network Criteria score to facilitate a phenotypic diagnosis is the preferred approach adopted in Australia and eliminates the need to undertake genetic testing for all suspected FH cases

Basic demographic details of Emyria patients (N = 3,961) at baseline (before treatment).

Basic demographic details of Emyria patients (N = 3,961) at baseline (before treatment).</p

Medical cannabis prescriptions (N = 14,718) by number of products and across different categories.

Medical cannabis prescriptions (N = 14,718) by number of products and across different categories.</p

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Fig 2 - </p

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Fig 3 - </p

Medicinal cannabis treatment categories by active ingredients of cannabidiol and tetrahydrocannabinol.

Medicinal cannabis treatment categories by active ingredients of cannabidiol and tetrahydrocannabinol.</p

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Fig 4 - </p

Primary diagnosis as well as number of comorbidities of Emyria patients (N = 3,961) at baseline.

Primary diagnosis as well as number of comorbidities of Emyria patients (N = 3,961) at baseline.</p