Effectiveness of cascade screening for elevated lipoprotein(a), an underdiagnosed family disorder

Area of Science:

• Cardiovascular Medicine
• Genetics
• Public Health

Background:

• Elevated lipoprotein(a) [Lp(a)] is a significant, inherited risk factor for cardiovascular disease.
• Current clinical practice lacks adequate detection of individuals with elevated Lp(a), hindering effective risk assessment.
• Consensus statements advocate for familial cascade screening to improve the identification of elevated Lp(a).

Purpose of the Study:

• To review and synthesize current research on the effectiveness of familial cascade screening for elevated Lp(a).
• To evaluate cascade screening as a strategy for detecting individuals at genetic risk for cardiovascular disease due to high Lp(a).

Main Methods:

• Systematic review of recent research on cascade screening for elevated Lp(a).
• Analysis of data comparing cascade screening with opportunistic screening for Lp(a) detection.
• Examination of number needed to screen (NNS) based on varying Lp(a) thresholds and populations.

Main Results:

• Cascade screening is a superior method for identifying individuals with elevated Lp(a) compared to opportunistic screening.
• Approximately one new case of elevated Lp(a) (≥ 125 nmol/L) is identified for every two first-degree relatives screened.
• The number needed to screen (NNS) ranged from 1.3 to 2.9, indicating high efficiency.

Conclusions:

• Familial cascade screening shows promise for identifying individuals with elevated Lp(a).
• Challenges in clinical implementation include determining optimal Lp(a) threshold values and accounting for ethnicity-related Lp(a) variability.
• Further research is needed to refine cascade screening protocols and maximize its clinical utility for cardiovascular disease risk management.