Schaefer Mark, Gotthardt Daniel N, Didion Christian, Stremmel Wolfgang, Weiss Karl H
Internal Medicine IV, University Hospital Heidelberg, Heidelberg, Germany.
J Clin Gastroenterol. 2015 Aug;49(7):e61-3. doi: 10.1097/MCG.0000000000000248.
To determine the prevalence and characteristics of lipomas in patients with Wilson disease.
Wilson disease is an autosomal recessive disorder resulting in copper accumulation in the liver and the central nervous tissue. Subcutaneous lipomas were often noted by the authors during clinical examinations of patients with Wilson disease. This is the first study to analyze the prevalence and progression of lipoma development in patients with Wilson disease.
Eighty consecutive patients attending a tertiary care center were examined for the presence of subcutaneous lipomas.
Subcutaneous lipomas could be detected during the examination of 21 (26%) of the 80 patients with Wilson disease. Multiple subcutaneous lipomas were present in 16 (76%) of the 21 affected patients. Lipomas were mainly found on the extremities and the trunk. Neither initial presentation nor decoppering treatment influenced the presence or course of lipomas in these patients.
Subcutaneous lipoma formation is more common in patients with Wilson disease than in the general population. We suggest that the presence of lipomas contributes to the differential diagnosis of Wilson disease.
确定威尔逊病患者脂肪瘤的患病率及特征。
威尔逊病是一种常染色体隐性疾病，会导致肝脏和中枢神经组织中铜蓄积。作者在对威尔逊病患者进行临床检查时经常注意到皮下脂肪瘤。这是第一项分析威尔逊病患者脂肪瘤发生的患病率及进展情况的研究。
对一家三级护理中心的80例连续就诊患者进行皮下脂肪瘤检查。
在80例威尔逊病患者中，有21例（26%）在检查时可检测到皮下脂肪瘤。21例受影响患者中有16例（76%）存在多个皮下脂肪瘤。脂肪瘤主要见于四肢和躯干。这些患者的初始表现和驱铜治疗均未影响脂肪瘤的存在或病程。
威尔逊病患者皮下脂肪瘤的形成比普通人群更为常见。我们认为脂肪瘤的存在有助于威尔逊病的鉴别诊断。
