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

A new electronic screening tool for identifying risk of familial hypercholesterolaemia in general practice

“…It is by using this retrospective approach combined with a more proactive, opportunistic approach aimed both at identifying new index cases and cascade testing relatives that increased detection of FH may be facilitated in primary care. Proposed methods of shared care11 12 will provide an additional29 and sustainable approach to the management of diagnosed FH patients largely within primary care.…”

“…However, phenotypic diagnosis is now recommended for use in the Australian primary care setting as a more pragmatic approach 5 6. Within primary care, general practice has been increasingly identified as an optimal setting for FH screening5–12 with suggested models including universal screening of children,13 opportunistic screening of patients with a positive family history and/or elevated cholesterol14 and screening using electronic medical records (EMRs) 11 12 15. Of these, electronic screening may offer the most systematic and cost-effective approach with greatest potential for integration into existing clinical practice 4 15.…”

Screening for familial hypercholesterolaemia in primary care: Time for general practice to play its part

“…In Australia, there have been attempts at improving detection and management of FH in the primary care sector [33,[45][46][47]. Models of care, which in the past have focussed on tertiary level hospital lipid clinics [3], are now looking at a greater involvement from primary care especially for patients without additional risk factors [22,41].…”

“…Various explanations have been offered to explain these missed opportunities for diagnoses including busy clinical settings at tertiary and primary care level, pressure on bed availability and early discharge policies from hospitals [20]. Increasing complexity and amount of multimorbidity [21] in routine clinical presentations to GPs make recognition of FH especially challenging [22].…”

The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia

“…Current evidence indicates that FH may cause a serious public genetic burden because of the high prevalence of heterozygous FH (HeFH) compared to homozygous FH (HoFH). While the global prevalence of HeFH is between 1 in 200 to 1 in 500 individuals, the prevalence of HoFH is between approximately 1 in 160,000 to 1 in 300,000 individuals3. Although early LDL-c lowering therapies, such as statins, can improve FH survival, FH remains underdiagnosed and undertreated in most countries4.…”