Familial hypercholesterolemia mimicking juvenile idiopathic arthritis

Abstract

Juvenile idiopathic arthritis (JIA) seen in children is a diagnosis of exclusion, as many systemic and metabolic diseases have similar presentation. Here, we present a case of a 14-year-old female girl who presented with polyarthralgia, fever, and nodules over body. She was diagnosed as JIA initially without any response to treatment. On further assessment, she had xanthelasma on eyelids, and a very high and low-density lipoprotein-cholesterol, a second-degree relative also with similar findings. The histopathology of the nodule was suggestive of xanthoma. Thus, she was diagnosed as familial hypercholesterolemia (FH) and was given statins. Articular manifestations are not very uncommon in patients of FH, and sometimes, they are the presenting symptoms in these patients. There are number of causes of arthritis with subcutaneous nodules in children apart from JIA which have been enumerated. Thus, FH must also be considered as a differential diagnosis in such patients.

Keywords

• familial hypercholesterolemia
• juvenile idiopathic arthritis
• xanthelasma
• xanthoma