Key result
Having both familial hypercholesterolemia and elevated Lp(a) (≥50 mg/dl) was associated with a significantly increased risk of ASCVD events or death compared to having neither disorder (HR 4.40; p<0.001).
Why the study?
Does measuring Lipoprotein(a) during cascade testing for familial hypercholesterolemia improve detection and risk stratification for ASCVD events in family members?
Cohort (n=2,927)
Does measuring Lipoprotein(a) during cascade testing for familial hypercholesterolemia improve detection and risk stratification for ASCVD events in family members?
Measuring Lipoprotein(a) during familial hypercholesterolemia cascade screening effectively identifies relatives at significantly heightened risk for ASCVD events, especially when the proband has both conditions.
BACKGROUND Familial hypercholesterolemia (FH) and elevated lipoprotein(a) [Lp(a)] are inherited disorders associated with premature atherosclerotic cardiovascular disease (ASCVD). Cascade testing is recommended for FH, but there are no similar recommendations for elevated Lp(a). OBJECTIVES This study investigated whether testing for Lp(a) was effective in detecting and risk stratifying individuals participating in an FH cascade screening program. METHODS Family members (N = 2,927) from 755 index cases enrolled in SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) were tested for genetic FH and elevated Lp(a) via an established screening program. Elevated Lp(a) was defined as levels ≥50 mg/dl. The authors compared the prevalence and yield of new cases of high Lp(a) in relatives of FH probands both with and without high Lp(a), and prospectively investigated the association between elevated Lp(a) and ASCVD events among family members. RESULTS Systematic screening from index cases with both FH and elevated Lp(a) identified 1 new case of elevated Lp(a) for every 2.4 screened. Opportunistic screening from index cases with FH, but without elevated Lp(a), identified 1 individual for 5.8 screened. Over 5 years' follow-up, FH (hazard ratio [HR]: 2.47; p = 0.036) and elevated Lp(a) (HR: 3.17; p = 0.024) alone were associated with a significantly increased risk of experiencing an ASCVD event or death compared with individuals with neither disorder; the greatest risk was observed in relatives with both FH and elevated Lp(a) (HR: 4.40; p < 0.001), independent of conventional risk factors. CONCLUSIONS Testing for elevated Lp(a) during cascade screening for FH is effective in identifying relatives with high Lp(a) and heightened risk of ASCVD, particularly when the proband has both FH and elevated Lp(a).
No takes yet. Share an insight, caveat, or question.
Ellis et al. (2019) conducted a cohort in Familial hypercholesterolemia and elevated lipoprotein(a) (n=2,927). Elevated Lp(a) (≥50 mg/dl) and Familial Hypercholesterolemia vs. Individuals with neither disorder was evaluated on ASCVD event or death (HR 4.40, p=<0.001). Having both familial hypercholesterolemia and elevated Lp(a) (≥50 mg/dl) was associated with a significantly increased risk of ASCVD events or death compared to having neither disorder (HR 4.40; p<0.001).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: