Madelung disease

Madelung disease (also known as benign symmetric lipomatosis, Launois-Bensaude syndrome, or Madelung-Launois-Bensaude syndrome) is a rare disorder characterized by the abnormal accumulation of fat deposits around the neck and shoulder area. This condition is most commonly seen in middle-aged men of Mediterranean descent who have a history of chronic alcoholism.

Etiology

The exact cause of Madelung disease is unknown, but it is believed to be related to a mutation in the mitochondrial DNA. This mutation affects the body's ability to properly metabolize fat, leading to its abnormal accumulation. Chronic alcoholism is also strongly associated with the disease, although the exact relationship between alcohol consumption and the development of Madelung disease is not fully understood.

Symptoms

The most noticeable symptom of Madelung disease is the presence of symmetrical, non-painful, fatty masses around the neck, shoulders, and upper arms. These masses can vary in size and number, and they can cause cosmetic concerns as well as physical discomfort. Other symptoms may include difficulty swallowing (dysphagia), shortness of breath (dyspnea), and hoarseness.

Diagnosis

Diagnosis of Madelung disease is typically based on the characteristic physical findings and a patient's medical history. Imaging studies such as computed tomography (CT) scans or magnetic resonance imaging (MRI) can be used to confirm the diagnosis and rule out other conditions. A biopsy of the fatty tissue may also be performed.

Treatment

There is currently no cure for Madelung disease, and treatment is primarily aimed at managing symptoms. This may include surgical removal of the fatty deposits for cosmetic reasons or to alleviate physical discomfort. In some cases, liposuction may be used. Patients are also advised to abstain from alcohol, as continued consumption can exacerbate the condition.

Prognosis

The prognosis for individuals with Madelung disease varies. While the condition itself is not life-threatening, it can significantly impact a person's quality of life due to the physical discomfort and cosmetic concerns associated with the fatty deposits. Additionally, many individuals with Madelung disease have underlying health issues related to chronic alcoholism, which can further impact their overall health and prognosis.

See also

• Lipoma
• Lipodystrophy
• Alcoholism

NIH genetic and rare disease info

• NIH info on Madelung disease

Madelung disease is a rare disease.