Systematic Identification of Familial Hypercholesterolaemia in Primary Care-A Systematic Review

Area of Science:

• Cardiovascular Medicine
• Genetics
• Public Health

Background:

• Familial hypercholesterolaemia (FH) is an inherited condition leading to premature cardiovascular disease.
• The majority of FH patients remain undiagnosed, highlighting a critical gap in detection.
• Effective strategies for systematic FH identification in primary care are needed.

Purpose of the Study:

• To systematically review interventions for identifying FH in primary care settings.
• To assess the effectiveness of different methods for FH case finding.
• To evaluate strategies for improving the diagnosis of FH in non-specialist healthcare environments.

Main Methods:

• Systematic review of intervention studies for FH identification in primary care.
• Inclusion of three non-randomized intervention studies.
• Analysis of interventions including electronic health record prompts, laboratory result comments, postal invitations, and outreach nurse assessments.

Main Results:

• On-screen prompts in electronic health records were used in all included studies for systematic FH identification.
• No significant increase in definite FH identification was observed with prompts combined with postal invitations (Simon-Broome criteria), though possible FH identification increased by 25.4%.
• On-screen prompts alone showed a small increase in definite FH identification (0.05%), but combining them with an outreach nurse did not yield significant improvements.

Conclusions:

• There is insufficient evidence to determine the most effective method for systematically identifying FH in primary care.
• On-screen prompts show potential but require further investigation regarding their optimal implementation and impact.
• Adverse effects were not reported in the included studies, suggesting interventions are likely safe.