Key result
Statin therapy resolves musculoskeletal symptoms and improves lipids in adolescent familial hypercholesterolemia.
Case Report (n=1)
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Familial hypercholesterolemia can present with atypical musculoskeletal manifestations such as joint pain in adolescents, which may resolve with lipid-lowering statin therapy.
Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol levels from birth, significantly increasing the risk of early cardiovascular disease. This abstract summarizes the clinical presentation of FH in an adolescent girl who presented with musculoskeletal manifestations, progressive joint pain and cutaneous xanthomas, and retinal vessel changes. Investigations revealed significantly elevated low-density lipoprotein (LDL) cholesterol levels. Detailed family history revealed premature cardiovascular events and hypercholesterolemia in siblings and father. The patient was initiated on statin therapy, after which lipid levels improved and joint symptoms resolved.
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Potla et al. (2026) conducted a case report in Familial Hypercholesterolemia (n=1). Statin therapy was evaluated on Lipid levels and joint symptoms. Statin therapy improved lipid levels and resolved joint symptoms in an adolescent girl with familial hypercholesterolemia presenting with musculoskeletal manifestations.
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