Department of Endocrinology, Qingdao Municipal Hospital, Qingdao, China.
Eur Rev Med Pharmacol Sci. 2024 Jul;28(13):3905-3911. doi: 10.26355/eurrev_202407_36522.
Madelung's disease is a rare disorder characterized by massive deposits of excess subcutaneous fat around the neck, shoulders, arms, and other parts of the body. It has a high prevalence among middle-aged alcoholic men in Mediterranean countries and a low incidence in Asian populations. Although patients with Madelung's disease are often associated with a variety of alcohol-induced metabolic disorders, the comorbidity of alcoholic cardiomyopathy is rarely reported, probably because of its low incidence or neglect by clinicians.
A 67-year-old man with a 10-year history of soft fat masses in the neck developed chest tightness and shortness of breath on exertion for the past 2 years. Laboratory tests revealed elevated γ-glutamyl transferase, glucose intolerance, hyperuricemia, hyperlipidemia, and anemia. Computed tomography of the neck showed symmetric nonencapsulated fat deposits, mainly in the anterior cervical regions. Echocardiography showed left heart enlargement and severe global left ventricular systolic dysfunction with an ejection fraction of 31%. Coronary angiography revealed 40-50% stenoses of the left anterior descending and right coronary arteries. After the exclusion of other causes of dilated cardiomyopathy, the patient was finally diagnosed with type I Madelung's disease and alcoholic cardiomyopathy. He underwent lifestyle changes, including reducing his alcohol intake, and received full pharmacological treatment for heart failure. One and a half years later, his cardiac function was partially restored, and all metabolic abnormalities improved except for elevated liver enzymes.
Alcohol use disorder should be assessed in patients with newly diagnosed Madelung's disease. Screening for alcoholic cardiomyopathy in alcoholic patients with Madelung's disease is necessary for early detection of cardiac abnormalities and intervention to improve the prognosis of this group of patients.
Madelung 病是一种罕见的疾病，其特征是大量的皮下脂肪沉积在颈部、肩部、手臂和身体的其他部位。它在地中海国家中年酗酒男性中发病率较高，在亚洲人群中发病率较低。尽管 Madelung 病患者常伴有多种酒精引起的代谢紊乱，但酒精性心肌病的合并症很少报道，可能是因为其发病率低或临床医生忽视。
一名 67 岁男性，颈部软脂肪肿块病史 10 年，近 2 年来在体力活动时出现胸闷和呼吸急促。实验室检查显示γ-谷氨酰转移酶升高、葡萄糖耐量异常、高尿酸血症、高脂血症和贫血。颈部 CT 显示对称的无包膜脂肪沉积，主要在前颈部区域。超声心动图显示左心增大和严重的整体左心室收缩功能障碍，射血分数为 31%。冠状动脉造影显示左前降支和右冠状动脉狭窄 40-50%。排除扩张型心肌病的其他原因后，该患者最终诊断为 1 型 Madelung 病和酒精性心肌病。他改变了生活方式，包括减少饮酒量，并接受了心力衰竭的全面药物治疗。一年半后，他的心脏功能部分恢复，除了肝酶升高外，所有代谢异常均得到改善。
在诊断为新发 Madelung 病的患者中应评估酒精使用障碍。在患有 Madelung 病的酒精性患者中筛查酒精性心肌病对于早期发现心脏异常和干预以改善这组患者的预后非常必要。
