Thakare Amit, Bhandari Hemant, Patwa Bhavya
Department of Orthopaedics, Bombay Hospital, Marine Lines, Mumbai, Maharashtra, India.
J Orthop Case Rep. 2025 May;15(5):75-79. doi: 10.13107/jocr.2025.v15.i05.5562.
Xanthomatosis is an atypical pseudotumor of connective tissue characterized by the accumulation of lipid-laden histiocytes, often manifesting as encapsulated yellowish masses. It is commonly associated with familial hypercholesterolemia (FH). This case report aims to present a rare instance of bilateral xanthomatosis affecting the Achilles tendons in a 42-year-old male, which underscores the importance of identifying clinical and radiological findings of this condition to facilitate early diagnosis and intervention for related musculoskeletal and metabolic disorders.
A 42-year-old male presented with a 6-year history of asymptomatic swelling in the distal aspect of both legs. On examination, firm, non-tender, non-reducible, and non-mobile masses were observed without signs of inflammation, and the patient maintained full ankle joint mobility. Magnetic resonance imaging findings revealed diffusely bulky Achilles tendons with specific imaging characteristics consistent with xanthomatosis. Further evaluation of the lipid profile confirmed hypercholesterolemia and hyperlipidemia. Given the absence of pain or movement restrictions, the patient was managed conservatively with monitoring and treatment for his lipid abnormalities.
This case of bilateral xanthomatosis of the Achilles tendon highlights its rarity and the importance of imaging techniques in diagnosis. Early recognition is critical, as it serves as a potential indicator of underlying hyperlipidemia, necessitating appropriate management to prevent complications. In this instance, conservative treatment was deemed suitable due to the absence of significant symptoms, emphasizing the need for ongoing observation and treatment for the identified lipid disorder.
黄瘤病是一种非典型的结缔组织假瘤，其特征为富含脂质的组织细胞聚集，常表现为包膜下淡黄色肿块。它通常与家族性高胆固醇血症（FH）相关。本病例报告旨在呈现一例罕见的双侧跟腱黄瘤病，患者为一名42岁男性，这凸显了识别该疾病临床和影像学表现对于促进相关肌肉骨骼和代谢紊乱的早期诊断及干预的重要性。
一名42岁男性，双下肢远端有无症状肿胀6年病史。检查发现，双侧跟腱处有质地坚硬、无压痛、不可复位且活动度差的肿块，无炎症迹象，患者踝关节活动自如。磁共振成像结果显示双侧跟腱弥漫性肿大，具有与黄瘤病相符的特定影像学特征。进一步的血脂检查证实存在高胆固醇血症和高脂血症。鉴于患者无疼痛或活动受限，对其进行了保守治疗，监测并治疗其脂质异常。
该例双侧跟腱黄瘤病病例凸显了其罕见性以及影像学技术在诊断中的重要性。早期识别至关重要，因为它可能是潜在高脂血症的指标，需要进行适当管理以预防并发症。在本例中，由于无明显症状，保守治疗被认为是合适的，这强调了对已识别的脂质紊乱进行持续观察和治疗的必要性。
