Extensive Giant Tuberous and Tendon Xanthomas in a 48-year-old Gentleman: A Case Report

Xanthomas are defined as benign lesions characterized by an accumulation of lipid-laden macrophages that develop in the cutis and subcutaneous tissue. Xanthomas are classified as eruptive, tuberous, tendinous, or planar depending on their location and clinical appearance. Co-existence of both tuberous and tendinous forms in an atypical large-sized pattern is a rarity and presented herewith.

A 48-year-old male patient presented with multiple large masses in his elbows, knees, Achilles tendons, feet, and hands. The largest swellings measured 12 cm × 10 cm in dimensions. The blood workup of the patient showed an elevated level of low-density lipoprotein cholesterol and was subsequently diagnosed with Type IIa familial hypercholesterolemia and multiple large co-existing tuberous and tendinous xanthomas which is a rare clinical presentation. Local surgical excision was performed to remove the symptomatic massive xanthomas from the elbows, knees, and feet. Histological analysis of the surgical specimens confirmed the clinical diagnosis of xanthomas.

Tuberous and tendinous xanthomas can co-exist in the same patient, including atypical large-sized forms. Usually, patients with xanthomas have some underlying metabolic lipid derangement and a cardiology workup to detect future cardiac risk is warranted. Intervention at an early stage can prevent the formation of disfiguring xanthomas in patients with underlying lipid disorder. The case also highlights a multi-disciplinary approach to such rare clinical presentations.