Physical activity and cardiovascular risk factors in familial hypercholesterolemia: A scoping review

Familial hypercholesterolemia (FH) is an inherited disorder characterized by lifelong elevations in low-density lipoprotein cholesterol (LDL-C) and increased cardiovascular risk. While statins are the primary treatment, physical activity (PA) may improve cardiovascular health in FH, though its effects remain unclear. This scoping review mapped existing evidence on PA and cardiovascular risk factors across the lifespan in individuals with FH.

PubMed, Embase, and CINAHL were searched through September 27, 2025. Eligible studies included participants with FH, assessed PA exposure or interventions, reported cardiovascular risk factors, and included a comparison group. Data from eligible studies were descriptively synthesized. A scoping review methodology was selected because the available evidence examining PA and cardiovascular biomarkers in FH is limited and heterogeneous with respect to study design, participant age, intervention characteristics, PA assessment methods, and reported outcomes. The objective was to map the existing evidence and identify where the gaps in knowledge are, instead of estimating the treatment effects.

Four studies met the inclusion criteria, spanning pediatric and adult populations. PA findings were heterogeneous. One intervention increased moderate-to-vigorous PA (MVPA) in adults but decreased MVPA in children, with no between-group differences. Observational data indicated that youth consistently exhibited low and declining PA. Cardiovascular risk factors were mixed, with only one study reporting significant LDL-C reductions.

Evidence linking PA to cardiovascular risk factors in FH is limited and inconsistent, highlighting the need for more rigorous, standardized, and longitudinal research.