Tolba Mohamed A, Mohamad Anwar, Farhat Youssef Z, Omar Mohammed A, Safy Ahmed M
Faculty of Medicine, M.U.S.T University, Giza.
Faculty of Medicine, Aleppo University, Aleppo, Syria.
Ann Med Surg (Lond). 2024 Mar 25;86(8):4754-4757. doi: 10.1097/MS9.0000000000001997. eCollection 2024 Aug.
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 low density lipoprotein cholesterol.
The authors 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 nontender. Laboratory tests revealed elevated levels of serum cholesterol (512 mg/dl) and low density lipoprotein 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 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, lifestyle 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 Homozygous FH by providing the suitable management for this case in its early stages which can prevent developing serious complication.
黄瘤是由于体内胆固醇和脂质积聚而引起的皮肤肿胀。它们与脂质紊乱有关，如家族性高胆固醇血症（FH）。FH是一种罕见的遗传性疾病，主要特征是低密度脂蛋白胆固醇水平升高。
作者报告了一例11岁女性病例，该患者全身多处肿胀，最大直径为7×4×3厘米。自4年前起，这些病变的大小逐渐增加。由于肿胀的外观，她受到学校同学的欺负。临床检查发现患者的肘部、膝盖和臀部有多个淡黄色肿块，无痛、质地坚硬且无压痛。实验室检查显示血清胆固醇（512毫克/分升）和低密度脂蛋白胆固醇（469.2毫克/分升）水平升高。肿块超声显示与上下肢皮下脂肪回声相似。切开活检显微镜图像显示有泡沫细胞簇。这些发现导致诊断为纯合子FH，她接受了手术以切除肘部的黄瘤。
黄瘤是由于高脂血症而形成的小的淡黄色皮肤肿胀。由于它们通常无痛且较小，这可能导致治疗延迟或误诊。药物、生活方式改变和手术是治疗方案的选择。
黄瘤可能是潜在高胆固醇血症问题的首个迹象，本病例报告通过在早期阶段为该病例提供适当的管理，突出了早期诊断纯合子FH的重要性，这可以预防严重并发症的发生。
