Department of Medicine, Midnapore Medical College, Paschim Medinipur, West Bengal, India.
Indian J Pediatr. 2010 Mar;77(3):329-31. doi: 10.1007/s12098-010-0021-5. Epub 2010 Feb 8.
Metabolic disorders are often encountered in clinical practice. Some of these diseases are associated with dermatological and musculoskeletal manifestations. Familial hypercholesterolemia is a disorder of lipoprotein metabolism characterized by elevated cholesterol, low-density lipoprotein cholesterol, xanthomas and early onset atherosclerosis. Tendinitis and arthritis have been rarely reported in patients with familial hypercholesterolemia. Here is presented a case of a young girl with migratory polyarthritis, who was diagnosed as probable homozygote familial hypercholesterolemia with hypercholesterolemic arthritis. A proper knowledge of cutaneous manifestations helps to identify patients at risk, establish the underlying diagnosis, and start early and effective therapy.
代谢紊乱在临床实践中经常遇到。其中一些疾病与皮肤和肌肉骨骼表现有关。家族性高胆固醇血症是一种脂蛋白代谢紊乱,其特征为胆固醇、低密度脂蛋白胆固醇升高、黄色瘤和早发动脉粥样硬化。家族性高胆固醇血症患者很少有肌腱炎和关节炎的报道。这里介绍了一个年轻女孩的病例,她患有游走性多发性关节炎,被诊断为可能的纯合子家族性高胆固醇血症伴高胆固醇血症性关节炎。对皮肤表现有适当的了解有助于识别有风险的患者,确定潜在的诊断,并尽早进行有效治疗。