Department of Neurology, College of Health Sciences, Addis Ababa University, P. O. Box: 41690, Addis Ababa, Ethiopia.
BMC Endocr Disord. 2021 Jul 3;21(1):142. doi: 10.1186/s12902-021-00803-9.
Madelung's disease (MD) is a rare disorder of fat storage characterized by the presence of diffuse, symmetrical deposition of subcutaneous fat around the neck, shoulder, arm, trunk and thigh. Although its cause is not fully understood, this benign condition is commonly presented among adult males with Mediterranean origin and history of alcohol abuse. Patients often presents with compression of vital structures, cosmetic disfigurement and associated psychosocial problems and systemic comorbidities. It is often under-recognized by physicians, possibly due to obliviousness of the condition and often misdiagnosed as obesity.
We present a 65-year-old non-alcoholic black Ethiopian man, presented with a slowly growing body fat in his trunk and proximal limbs associated by multiple joint and back pain which got worse recently. He denied any history of chronic alcohol use. On examination, huge, bilateral, non-tender, soft, globular masses in his torso, shoulder, arm and thigh with bilateral breast enlargement. On investigation his biochemical profile was normal except hyperuricemia (10.6 mg/dl). Imaging of the cervical and lumbar vertebrae showed excess subcutaneous fat depositions with degenerative disc disease. Biopsy from the mass revealed non-encapsulated lipoma and he was diagnosed with type II MD. We treated his pain with supportive therapy and discharged in stable condition. The patient deferred surgical treatment.
Madelung's disease is often reported among white adult males with chronic alcoholism. However, our case reported a black man without the typical risk factor which was misdiagnosed as obesity. Hence, clinicians should be aware of MD and need to consider it in their differential diagnosis when encountered with a patient having progressive centripetal fat deposition with or without a history of alcoholism and systemic comorbidities. As early detection of this disorder helps to avoid diagnostic delays and prevent complications through timely interventions which will in turn improves patient quality of life.
Madelung 病（MD）是一种罕见的脂肪贮积疾病，其特征为颈部、肩部、手臂、躯干和大腿周围存在弥漫性、对称性的皮下脂肪沉积。虽然其病因尚未完全阐明，但这种良性疾病常见于有地中海血统和酗酒史的成年男性。患者常因重要结构受压、美容畸形以及相关的心理社会问题和全身合并症而就诊。由于医生对这种疾病的认识不足，可能会忽略这种疾病，而且经常误诊为肥胖症。
我们报告了一位 65 岁的非酗酒的黑人埃塞俄比亚男性，他的躯干和近端肢体逐渐出现脂肪堆积，并伴有多处关节和背部疼痛，最近疼痛加剧。他否认有慢性酗酒史。体格检查发现其躯干、肩部、手臂和大腿双侧存在巨大的、双侧的、非触痛的、柔软的、球状肿块，双侧乳房增大。生化检查除血尿酸升高（10.6mg/dl）外其他均正常。颈椎和腰椎的影像学检查显示皮下脂肪过度沉积伴退行性椎间盘疾病。肿块的活检显示为非包膜性脂肪瘤，诊断为 II 型 MD。我们给予他对症治疗以缓解疼痛，然后病情稳定出院。患者拒绝了手术治疗。
Madelung 病常见于有慢性酗酒史的白人成年男性。然而，我们的病例报告了一位没有典型危险因素的黑人男性，他被误诊为肥胖症。因此，当遇到有进展性向心性脂肪沉积、有或无酗酒史和全身合并症的患者时，临床医生应意识到 MD 的存在，并将其纳入鉴别诊断。早期发现这种疾病有助于避免诊断延误，并通过及时干预预防并发症，从而提高患者的生活质量。
