Definition of Madelung disease

Madelung disease: A disorder characterized by painless symmetrical diffuse deposits of fat beneath the skin of the neck, upper trunk, arms and legs.

The condition is thought to be genetic although its exact mode of inheritance is uncertain; it may be a mitochondrial DNA disease. It frequently appears in association with alcoholic liver disease, macrocytic anemia ("low blood" with big red blood cells) and peripheral neuropathy (disease of the peripheral nervous system, as opposed to the brain and spinal cord). The peripheral neuropathy has often been laid to alcoholism, but the neuropathy is likely an integral part of the syndrome.

This disorder affects mainly men and is more frequent in the Mediterranean area. It has been suggested that the distribution of fat in this disease resembles that of a pre-Roman (6th century BC) Italic statue called the Capestrano warrior discovered in the Abruzzi region of Italy.

The syndrome is also known as multiple symmetrical lipomatosis, cephalothoracic lipodystrophy, and the Launois-Bensaude syndrome. It was called 'fat neck' (Fetthals) by Madelung in 1888.