Key result
Cascade testing from FH index cases with elevated Lp(a) ≥50 mg/dL identified elevated Lp(a) in 1 of every 2 children tested, compared to 1 in 7.5 from index cases with normal Lp(a) (p<0.001).
Why the study?
Recent expert recommendations suggest opportunistically testing for elevated Lp(a) during cascade testing for familial hypercholesterolaemia, but the effectiveness of this detection strategy in children and adolescents required investigation.
Does cascade testing from FH index cases with elevated Lp(a) improve the detection of elevated Lp(a) in children and adolescents compared to opportunistic screening from FH index cases with normal Lp(a)?
Observational (n=103)
Does cascade testing from FH index cases with elevated Lp(a) improve the detection of elevated Lp(a) in children and adolescents compared to opportunistic screening from FH index cases with normal Lp(a)?
Cascade testing for elevated Lp(a) in children and adolescents is highly effective when the adult FH index case also has elevated Lp(a).
Supports targeted cascade Lp(a) testing in FH families; hypothesis-generating and requires prospective validation before practice change.
Elevated plasma lipoprotein(a) [Lp(a)] is a common, inherited condition independently causing cardiovascular disease. Recent expert recommendations suggest opportunistically testing for elevated Lp(a) during cascade testing for familial hypercholesterolaemia (FH). We investigated the effectiveness of detecting elevated Lp(a) in 103 children and adolescents who were first-degree relatives of 66 adult index FH cases as part of an established FH cascade screening program. The yield of detection of elevated Lp(a) using a threshold of ≥30 mg/dL in children and adolescents was assessed. Cascade testing from FH index cases with elevated Lp(a) ≥50 mg/dL identified 1 case of Lp(a) ≥30 mg/dL for every 2 children or adolescents tested. In contrast, opportunistic screening from index cases with FH but normal Lp(a) levels demonstrated 1 case of Lp(a) ≥30 mg/dL for every 7.5 children or adolescents tested (p < 0.001). In conclusion, cascade testing for elevated Lp(a) from index cases with FH and elevated Lp(a) is effective in identifying new cases of elevated Lp(a).
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Loh et al. (2023) conducted an observational in Familial hypercholesterolaemia and elevated Lp(a) (n=103). Cascade testing from FH index cases with elevated Lp(a) ≥50 mg/dL vs. Index cases with FH but normal Lp(a) levels was evaluated on Detection of elevated Lp(a) ≥30 mg/dL (p=< 0.001). Cascade testing from FH index cases with elevated Lp(a) ≥50 mg/dL identified elevated Lp(a) in 1 of every 2 children tested, compared to 1 in 7.5 from index cases with normal Lp(a) (p<0.001).
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