An unusual cause of joint swelling

Abstract

A 26-year-old woman came to the rheumatology clinic from Nepal with a 5-year history of joint swelling. She had painful joint movements and chest pain on exertion. Her mother had died suddenly aged 47 years. Examination showed: tendon xanthomas over the bilateral 3 proximal interphalangeal joints (fi gure A), feet, shins and elbows; tuberous xanthomas (fi gure B); palmar xanthomas (fi gure C); eruptive xanthomas (fi gure D); xanthelasmas (fi gure E); and arcus senilis (fi gure E). Total cholesterol was 12·85 mmol/L, LDL 10·54 mmol/L, triglycerides 0·69 mmol/L, HDL 0·62 mmol/L, VLDL 0·47 mmol/L, and apolipoprotein A 0·88 g/L. Angiography showed 70% occlusion of the left anterior descending artery (LAD) and D1 branch (fi gure F), atheroectactic lesions in right common carotid artery and the right subclavian and internal carotid artery. A diagnosis of familial hypercholesterolaemia was made and lipid lowering medication initiated. Coronary artery bypass grafting is planned. Lancet 2010; 375: 1109