Surgical treatment of multiple large tuberous xanthomas in familial hypercholesterolemia: A case report

Int J Surg Case Rep. 2021 Dec:89:106596. doi: 10.1016/j.ijscr.2021.106596. Epub 2021 Nov 12.

Abstract

Introduction and importance: Xanthomas are a rare condition with the appearance of exogenous masses on the body, and it is common in patients with familial hypercholesterolemia (FH). For multiple large xanthomas, surgical excision is optimal to improve the patient's quality of life.

Case presentation: A 34-year-old male patient presented with multiple large tuberous xanthomas related to FH. There were 15 masses in different body parts, including the dorsum of the hands, elbows, buttocks, feet, and Achille's tendon. The largest masses in the buttocks measured 8 × 8 × 5 cm. Surgical removal of 13 masses was carried out in combination with medical treatment. The skin incision was oval around the circumference of masses with the longitudinal axis parallel to the Langer's line. Skin defects were closed directly or dissected on both sides of the incision to reduce tension. Wound healing was normal. After 1.5 months, there was no recurrence of xanthomas.

Clinical discussion: Surgical treatment easily removes the entire tuberous xanthomas. The healing process is completely normal. Resection should be indicated for tuberous xanthomas that cause negative functional and aesthetic effects. Besides, lipid-lowering therapy is necessary to prevent tuberous xanthomas recurrence as well as premature coronary artery diseases.

Conclusion: Surgical treatment of patients with multiple large tuberous xanthomas related to familial hypercholesterolemia was performed safely and successfully. After 1.5 months of follow-up, the wound healed well and no recurrence of xanthomas was detected. We recommend that a further study is needed to investigate post-treatment recurrence for multiple large xanthomas.

Keywords: Case report; Familial hypercholesterolemia; Tuberous xanthoma.