Extensive papulonodular xanthoma: a diagnostic clue to homozygous familial hyperlipidaemia

Abstract

A man in his early 30s, presented with multiple soft tissue swellings over the buttocks, around the knees, ankles and dorsum of both the hands since childhood. His father and paternal uncle had similar lesions, and his father had coronary artery disease. One of his sisters had a history of sudden death due to an unknown cause at 14 years. The patient and his parents had very high serum levels of total cholesterol and low-density lipoprotein. Based on the above findings, a clinical diagnosis of familial hyperlipidaemia type II was made. Larger lesions were excised in stages, and histopathological evaluation revealed the lesions to be eruptive xanthoma. A cardiac assessment revealed no significant abnormality. Lipid-lowering agents and low-dose aspirin were started, and the patient was advised for regular cardiology and endocrine evaluation. This case emphasises its rare presentation and the importance of early diagnosis and management to prevent any untoward future incidence.