Familial Hypercholesterolemia Presenting With Joint Pain in an Adolescent Girl

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.