A 23-year-old male patient presented with multiple large masses in his elbows, buttocks, knees, Achilles tendons, feet, shoulders and hands. The large masses in the elbows and buttocks measured ~6×5×5 cm and ~7×5×4 cm, respectively. The patient presented with an elevated level of low-density lipoprotein cholesterol, and had been previously diagnosed with homozygous familial hypercholesterolemia (FH) and multiple xanthomas. Local surgical excisions were performed to remove the massive xanthomas from the elbows and buttocks, and histological analysis of the surgical specimens confirmed the previous diagnosis of homozygous FH (HoFH). The aim of the present study was to report a rare case of HoFH coinciding with multiple, large and widely-distributed xanthomas and to discuss the clinical characteristics, in order to provide a better understanding of xanthomas and FH.
Keywords: familial hypercholesterolemia; xanthomas.