Department of Trauma and Emergency Medicine (Burns & Plastic Surgery), All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Orissa, India.
Department of Burns & Plastic Surgery, AIIMS Bhubaneswar, Bhubaneswar, Orissa, India
BMJ Case Rep. 2022 Mar 16;15(3):e245418. doi: 10.1136/bcr-2021-245418.
A man in his early 30s, presented with multiple soft tissue swellings over the buttocks, around the knees, ankles and dorsum of both the hands since childhood. His father and paternal uncle had similar lesions, and his father had coronary artery disease. One of his sisters had a history of sudden death due to an unknown cause at 14 years. The patient and his parents had very high serum levels of total cholesterol and low-density lipoprotein. Based on the above findings, a clinical diagnosis of familial hyperlipidaemia type II was made. Larger lesions were excised in stages, and histopathological evaluation revealed the lesions to be eruptive xanthoma. A cardiac assessment revealed no significant abnormality. Lipid-lowering agents and low-dose aspirin were started, and the patient was advised for regular cardiology and endocrine evaluation. This case emphasises its rare presentation and the importance of early diagnosis and management to prevent any untoward future incidence.
一位 30 岁出头的男性，自童年起就出现臀部、膝盖周围、脚踝和双手背部多处软组织肿胀。他的父亲和叔父爱德华有类似的病变，且他的父亲患有冠状动脉疾病。他的一个姐姐在 14 岁时因不明原因突然死亡。患者及其父母的总胆固醇和低密度脂蛋白水平非常高。根据上述发现，临床诊断为家族性高脂血症 II 型。分阶段切除较大的病变，组织病理学评估显示病变为发疹性黄色瘤。心脏评估未发现明显异常。开始使用降脂药和低剂量阿司匹林，并建议患者定期进行心脏科和内分泌科评估。该病例强调了其罕见的表现以及早期诊断和管理的重要性，以预防任何不良的未来事件。
