Department of Vascular Medicine, University Medical Center Utrecht, The Netherlands.
Department of Chemical Pathology, University of Cape Town, South Africa.
J Clin Lipidol. 2016 Sep-Oct;10(5):1262-5. doi: 10.1016/j.jacl.2016.05.005. Epub 2016 May 14.
Tendon xanthoma are most commonly associated with Familial Hypercholesterolemia, but the differential diagnosis includes sitosterolemia and cerebrotendinous xanthomatosis (CTX). The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX. CTX is a rare, recessive disorder caused by mutations in the CYP27A1 gene. The resultant defect in bile acid synthesis leads to cholestanol deposition in different tissues in the body, including tendons. CTX is associated with neurologic symptoms and a reduced life expectancy. Treatment consists of bile acid supplementation in combination with a statin. When patients present with tendon xanthomas and FH is ruled out, clinicians should consider CTX as a possible diagnosis.
腱黄瘤最常与家族性高胆固醇血症相关，但鉴别诊断包括谷甾醇血症和脑腱性黄瘤病（CTX）。此处介绍的病例是一名 48 岁男性，因 CTX 导致大腱黄瘤。CTX 是一种罕见的隐性遗传疾病，由 CYP27A1 基因突变引起。胆汁酸合成的缺陷导致胆甾醇在体内不同组织中沉积，包括腱。CTX 与神经症状和预期寿命缩短有关。治疗包括胆汁酸补充与他汀类药物联合使用。当患者出现腱黄瘤且排除 FH 时，临床医生应考虑 CTX 作为可能的诊断。
