Madelung’s disease is characterized by the presence of fatty tumors (lipomas) located symmetrically around the neck, shoulders, trunk, hips, upper arms and thighs. While these abnormal fatty tumors may grow over the course of months to years, the disease usually demonstrates a rapid progression at first and then slows down as the size of the fatty mass stabilizes. The rest of the body may be lean in contrast to the affected parts.
In 1984, Enzi classified two variants of Madelung’s disease – type 1 and 2 – based on where the excess fat accumulated. The more frequent type 1 variant is common in males and manifests as fatty tumors primarily around the neck (known as ‘Madelung’s collar’) and upper shoulders with relative sparing of the trunk and arms. As a result, type 1 variant patients have a ‘pseudo-athletic’ appearance. In contrast, the type 2 variant is observed in both males and females equally and resembles ‘generalized obesity’ as the fatty deposition occurs in the trunk, upper portion of arms, abdomen, hips and upper thighs. In 1991, a type 3 (gynecoid type) variant was added to the classification characterized by fat accumulation primarily in the pelvic region.
Peripheral neuropathy, or impaired function of the nerves in the arms and legs, often accompanies Madelung’s disease, especially as the affected person grows older. However, these neurological deficits may be difficult to distinguish from the long-term effects of alcoholism when overuse of alcohol is a factor. Nevertheless, the peripheral neuropathy may lead to decreased power in the muscles of the upper (proximal) portion of the arms and legs (myopathy). Symptoms can also arise from the fatty masses compressing important structures in the neck such as the airway (trachea), voice box (larynx), esophagus, and carotid blood vessels. Depending on the severity of the disease, the fatty tumors may cause patients to experience Difficulty breathing (dyspnea), swallowing (dysphagia) and speaking (dysphonia). The patient can present with limited mobility of the neck and may even develop sleep apnea as the disease progresses. It is important to note that the physical changes in a patient’s body resulting from the excessive fatty deposition can take a toll on the patient’s mental health and lead them to suffer from depressive disorders. Social loss (ex. difficulty performing or maintaining a job) due to impaired mobility and other issues has been reported in patients.
There are metabolic abnormalities and other conditions usually associated with Madelung’s disease. These include Diabetes mellitus, hypertension, hypothyroidism, liver disease and gout. A vast majority of the patients (~90%) diagnosed with Madelung’s disease have secondary (alcohol-induced) liver cirrhosis. Although rare, some cases have demonstrated malignant transformation and association of the disease with airway and digestive tract malignancies.