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Year : 2022  |  Volume : 10  |  Issue : 1  |  Page : 81-83

Giant sacral xanthoma in familial hypercholesterolemia

Department of Pathology, ABVIMS and Dr RML Hospital, New Delhi, India

Correspondence Address:
Dr. Sunayana Misra
Department of Pathology, ABVIMS and Dr RML Hospital, Room - 323, OPD Block, 3rd Floor, New Delhi - 110 001
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/amhs.amhs_215_21

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A 28-year-old male patient presented with multiple large, superficial, nodular masses in his elbows, buttocks, knees, Achilles tendons, feet, shoulders, and hands along with small xanthomatous lesions on the face, inner epicanthal region; largest mass being in the sacral region measuring 15 cm × 12 cm × 8 cm. The patient also presented with an elevated level of low-density lipoprotein cholesterol and was diagnosed with familial hypercholesterolemia (FH) presenting with multiple xanthomas. Local surgical excision was performed to remove the massive xanthoma from the sacrum, histopathology of which showed sheets of foamy lipid-laden histiocytes dissecting through the dermis and subcutaneous fat. The presence of long standing and/or multiple xanthomas often indicates severe and long-term FH. A thorough systemic workup is needed for such patients, especially to rule out cardiovascular complications so that lipid-lowering agents and dietary modifications can be initiated early on. We present the case of a young male patient with FH presenting with multiple large tuberous xanthomas all over the body.

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