Surgical removal of multiple xanthomas in familial hypercholesterolemia: a case report

Abstract

Xanthomas are skin swellings that are caused by the accumulation of cholesterol and lipids in the body. They are associated with lipid disorders, such as familial hypercholesterolemia (FH). FH is a rare genetic disorder which is characterized mainly by high levels of LDL cholesterol. We report a case of an 11-year-old female who had multiple swellings all over the body with the largest measuring 7×4×3 cm in diameter. These lesions were gradually increasing in size since 4 years. She was being bullied by her school colleagues because of swellings appearance. Clinical examination revealed multiple yellowish masses on the patient’s elbows, knees, and buttocks which were painless, firm, and non-tender. Laboratory tests revealed elevated levels of serum cholesterol (512 mg/dL) and LDL cholesterol (469.2 mg/dL). Masses Ultrasound showed similar echogenicity to upper and lower extremities subcutaneous fat. Incisional biopsy microscopic images revealed clusters of foam cells. These findings led to a diagnosis of Homozygous FH (HoFH) and she underwent surgery to remove the xanthomas on her elbows. Xanthomas are small, yellowish skin swellings that form due to the presence of high lipids. As they are typically painless and small, this could lead to a late treatment or misdiagnosis. Drugs, life style changes and surgery represent treatment plan options. Xanthomas can be the first indication of an underlying hypercholesterolemia problem and this case report highlights the importance of early diagnosis of HoFH by providing the suitable management for this case in its early stages which can prevent developing serious complication.