Treatment of the arthropathy of familial hypercholesterolaemia

A 29-year-old woman suffering from the arthropathy of familial hypercholesterolaemia was treated with a fat-modified low-cholesterol diet and colestipol. Symptomatic improvement occurred in association with a moderate reduction in the plasma cholesterol concentration. The pathogenesis of the musculoskeletal features of this disease is reviewed, and the implications of this patient's therapeutic response are explored.