Tuberous xanthoma - a rare presentation of homozygous familial hypercholesterolaemia

Familial Hypercholesterolaemia is a common autosomal dominant condition characterised by increased low-density lipoprotein cholesterol, tendon xanthomas, and premature atherosclerosis. We report a 10-year-old girl with very high LDL cholesterol levels, where the diagnosis was alerted by the presence of extensive tuberous xanthomas. Family screening revealed high levels of LDL cholesterol in both parents and siblings.