Madelung’s Disease

Epidemiology

Madelung’s disease (benign symmetrical lipomatosis) is a rare disorder initially described by Brodie in 1846. The disease is characterized by massive deposition of fat in the neck, shoulders, and upper thorax. The disease is most common in men living in the Mediterranean region. The reported incidence is approximately 1 in 25,000 Italian men. The exact cause of the disease is unknown. Possible causes include a defect in adrenergic-stimulated lipolysis or a response to “functional sympathetic denervation.” Madelung’s disease appears to be sporadic, although some familial cases have been reported. There appears to be a strong association with excessive alcohol intake. Other associated conditions include reduced glucose intolerance, gout, liver disease, polyneuropathy, diabetes mellitus, peripheral insulin resistance, renal tubular acidosis, hypertension, hypothyroidism, hyperlipidemia, and increased lipoprotein lipase activity.

Clinical Features

These patients often have a characteristic appearance. Patients may have a “hamster” or “pseudoathletic” appearance due to symmetric fat deposition in the neck, upper thorax, lower face, and shoulders. Involvement of the visceral space may result in tracheal or laryngeal compression. Patients may also have a peripheral or sensory motor neuropathy. Malignant degeneration has been reported but is very rare.