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Genetic and Rare Diseases Information Center (GARD)

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Madelung disease

Other Names for this Disease
  • Benign symmetrical lipomatosis
  • Familial symmetric lipomatosis
  • Launois-Bensaude syndrome
  • Madelung's disease
  • Multiple symmetric lipomatosis
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Your Question

I would like to know more about Madelung disease. I have been diagnosed with it. What is the best pain management for it?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Where can I locate additional information resources for Madelung disease?

The GARD disease-specific Web page on Madelung disease provides links to additional disease information, clinical trials and research, supportive resources, and more. Click on the link to view these resources.
Last updated: 8/18/2010

What is Madelung disease?

Madelung disease is a rare condition characterized by the growth of fatty tumors (lipomas) symmetrically around the neck, shoulders, upper arms and/or upper trunk.[1] It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms, and the disease progression, vary greatly from person to person.[2] Usually, accumulation of fatty tissue increases progressively and often leads to a loss of neck mobility and pain.[3] There may be a period of rapid growth of the tumors followed by a period of stabilization. The lipomas can cause cosmetic deformity and peripheral neuropathy. In the majority of cases, the disease is benign; however, there have been cases in which lipomas have become cancerous.[2] The exact cause of Madelung disease is unknown but may be associated with mutations in mitochondrial DNA and/or alcoholism.[3] Treatment may include avoiding alcohol, medications to correct associated metabolic conditions and surgery or liposuction to remove the lipomas.[2]
Last updated: 6/28/2013

What are the signs and symptoms of Madelung disease?

The signs and symptoms of Madelung disease vary from person to person. The deposits present in the disease typically occur around the face, the back of the head, the neck, the upper arms, the abdomen, and the back and upper parts of the leg.[4] The most common complaint is the signficant cosmetic deformities associated with the lipomas. However, some patients also complain of movement limitation and neurological disturbances such as difficulty swallowing, hoarseness, sleep problems, tachycardia (rapid heart rate), fluctuation in blood pressure, and breathing issues.[5]
Last updated: 8/18/2011

What causes Madelung disease?

The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. Several studies have reported mutations in mitochondrial DNA on muscle biopsy of some affected individuals.[6] The condition may also relate to another type of defect in an enzyme, or a change in the surface of cells, that prevents the breakdown of fat.[2] The body's inability to properly metabolize fat in affected individuals suggests to some scientists that Madelung disease may be an endocrine disorder. Alcohol consumption may concurrently play a role in any of these potential causes of the condition.[2][7] Because there have been reports of familial cases of Madelung disease, it may be inherited in at least some cases; however, the mode of inheritance has not been determined.[1]
Last updated: 6/28/2013

How is Madelung disease diagnosed?

Madelung disease can typically be diagnosed when the healthcare provider obtains an accurate medical history and performes a thorough physical examination. Imaging studies such as ultrasounds, CT scans or MRIs are also used.[5]
Last updated: 6/28/2013

How might Madelung disease be treated?

To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction.[2][6] Liposuction has gained popularity in more recent years due to its minimal scarring. It is also considered less invasive, technically easier, and better suited for individuals with a higher surgical or anaesthetic risk.[6] Some researchers believe it is unnecessary to subject affected individuals to the risks of surgery because the condition is usually benign, and that surgical excision should be limited to those with airway compression or severe cosmetic deformities. The limitations of liposuction include inadequate aspiration of lipoma. The main disadvantage of surgical excision is the scarring.[6] However, it offers the chance of more extensive "debulking" of affected areas. Reportedly, it is rarely possible to remove the lipomas completely.[7]

Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of lipids (lipolysis). Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.[5][2][6]
Last updated: 6/28/2013

What is the best pain management for Madelung disease?

To determine what type of pain management might be the best option for you, we recommend you speak with your health care provider.
Last updated: 8/18/2010