Madelung’s disease in a non-alcoholic Ethiopian male patient mistaken for obesity: a case report

Abstract

Background 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. Case presentation 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. Conclusions 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.

Type 1C Multiple Symmetrical Lipomatosis: A Cause of Misdiagnosis in Females

“…In non-alcoholic type 2 MSL, a pseudoathletic appearance may be misinterpreted as obesity. The differential diagnosis of obesity may also include other conditions such as familial multiple lipomatosis, Cushing's syndrome, iatrogenic cutaneous lipomatosis, encapsulated lipomas, angiolipomatosis, myxoid liposarcoma, and lymphoma [ 9 , 11 ]. An essential diagnostic tool for MSL disease is computed tomography with multiplanar reconstruction (MPR) and volumetric rendering technique (VRT), which allows for the evaluation of the severity of lesions and the planning of treatments.…”

A case report of Madelung's disease in China

“…The diseased adipose tissue is mainly concentrated in the parotid gland, neck, nape, submental area, upper back, shoulder, upper arm, neck deltoid area, and supraclavicular fossa.The incidence of type II madelung's disease is similar in men and women.Adipose tissue mainly accumulated in the extremities and upper torso, including the upper arms, upper back, inner thighs, abdomen and buttocks. Patients gained weight and showed signs of obesity, resulting in signs of prosthesis [8] . Type III is the congenital accumulation of fat in children, mainly around the trunk of the bone.In this case, the patient was the type I, with fat accumulation on both sides of the neck, occiput, submandibular, supraclavicular fossa, and shoulder.…”

Doença de Madelung - relato de um caso com associação de apneia obstrutiva do sono

“…DISCUSSÃO: A doença de Madelung (DM) é uma doença rara, de condição benigna, caracterizada pela deposição lenta e simétrica de tecido adiposo não encapsulado em diferentes sítios anatômicos, sendo a região acometida pelo depósito o pilar que norteia a classificação de seus subtipos: a DM mais comum, a DM do tipo I é uma lipomatose em metade superior do corpo, principalmente em pescoço, braços e metade superior das costas e a tipo II, de difícil diagnóstico em indivíduos obesos, o paciente apresenta lipomatose nos quadris e coxas. Em termos epidemiológicos, afeta principalmente homens, na faixa etária 30 a 60 anos, com histórico de abuso etílico (1,2). O caso apresentado corrobora com a literatura descrita, já que o perfil do paciente corresponde aos achados descritos.…”