Osteoporosis, weight gain and atypical fat accumulations – a typical feature not only for Cushing's, but also Madelung's disease: A case report

Madelung's disease, or multiple symmetric lipomatosis, is an extremely rare disease and very likely to be under-diagnosed. It is characterized by multiple symmetrical non-encapsulated fat accumulations mainly located around the neck, shoulders, upper extremities and upper parts of the trunk. The disorder predominantly affects middle-aged men of Mediterranean origin with a history of ethanol intake. Reports of this uncommon disorder in women are very rare. The aim of this article is to report the endocrine and metabolic workup leading to the diagnosis of this uncommon disorder. A 55-year-old woman with osteoporosis was referred to our outpatient clinic with a suspected diagnosis of Cushing's disease. The patient complained of undesired weight gain with atypical fat accumulations predominantly in the upper trunk region during the previous 10 weeks. She presented with the characteristic physical features of Madelung's disease and underwent a thorough examination with endocrine and metabolic evaluation of this rare condition and was finally diagnosed with Madelung's disease. This report demonstrates how a diagnosis of this rare disorder can be reached efficiently. A history of osteoporosis in combination with weight gain and atypical fat accumulations ultimately led to the diagnosis of Madelung's diseases, a rather unknown disorder likely to be under-diagnosed. Although treatment options are limited, a diagnosis is still important for the affected individual.