Tuberous xanthoma secondary to homozygous familial hypercholesterolaemia: a life-threatening diagnosis

Abstract

We report the case of a 9-year-old girl who presented with asymptomatic lesions on the extensor surfaces of the elbows and knees, in keeping with tuberous xanthoma. She was investigated and diagnosed with homozygous familial hypercholesterolaemia, and commenced on lipid-lowering treatment. We highlight the importance of identification of this condition early, such that life-saving treatment can be initiated and premature death avoided. Click here for the corresponding questions to this CME article.