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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Madelung disease?

What are the signs and symptoms of Madelung disease?

What causes Madelung disease?

Is Madelung disease inherited?

How is Madelung disease diagnosed?

How might Madelung disease be treated?

What is Madelung disease?

Madelung disease is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) 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 vary greatly from person to person.[2] Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain.[3] The lipomas can cause physical deformity and peripheral neuropathy. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances.[2] The exact cause of Madelung disease is unknown, but it may be associated with changes (mutations) in mitochondrial DNA and/or alcoholism.[3] Treatment may include medications to correct associated metabolic conditions; surgery or liposuction to remove the lipomas; and avoidance of alcohol.[2]
Last updated: 11/19/2014

What are the signs and symptoms of Madelung disease?

The signs and symptoms of Madelung disease vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. In some affected people, these fatty deposits may grow rapidly over the course of months, while others experience a slower progression over the course of years.[1] The lipomas can be associated with significant physical deformity and may lead to a loss of neck mobility and pain.[3] In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances.[2]

People with Madelung disease may also develop peripheral neuropathy and neurological disturbances including difficulty swallowing, hoarseness, sleep problems, tachycardia (rapid heart rate), fluctuation in blood pressure, and breathing issues.[4] In some cases, it may be associated with other metabolic abnormalities or diseases such as hypertension, diabetes mellitus, hypothyroidism, and liver disease.[1][5]
Last updated: 11/19/2014

What causes Madelung disease?

The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder.[1] An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition.[6] Alcohol consumption may also play a role in the development of Madelung disease since roughly 90% of affected people have a history of alcohol abuse.[6][5]

Madelung disease has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined.[1] However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.[7][3]
Last updated: 11/20/2014

Is Madelung disease inherited?

Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. In the majority of these families, the mode of inheritance has not been determined.[1] However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.[7][3]
Last updated: 11/20/2014

How is Madelung disease diagnosed?

Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of Madelung disease, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis.[4][5]
Last updated: 11/20/2014

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.[6][7] Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk.[7] Some researchers believe it is unnecessary to subject affected people to the risks of surgery because the condition is usually benign. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities.[7]

The limitations of liposuction include incomplete removal of lipomas. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas.[7] Reportedly, it is rarely possible to remove the lipomas completely and they often recur after both of these procedures.[6][5]

Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.[4][6][7]
Last updated: 11/20/2014

References
  1. Madelung's Disease. NORD. April 1, 2005; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/778/viewAbstract.
  2. Ramos S, Pinheiro S, Diogo C, Cabral L, Cruzeiro C. Madelung disease: a not-so-rare disorder. Ann Plast Surg. January 2010; 64(1):122-124.
  3. Marie-Christine Vantyghem. Familial symmetric lipomatosis. Orphanet. October 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2398. Accessed 6/28/2013.
  4. Alameda YA, Torres L, Perez-Mitchell C, Riera A. Madelung disease: A clinical diagnosis. Otolaryngology-Head and Neck Surgery. September 2009; 141(3):418-419.
  5. Mimica M, Pravdic D, Nakas-Icindic E, Karin M, Babic E, Tomic M, Bevanda M. Multiple symmetric lipomatosis: a diagnostic dilemma. Case Rep Med. 2013; 2013:1-4. Accessed 11/19/2014.
  6. Ramos S, Pinheiro S, Diogo C, Cabral L, Cruzeiro C. Madelung disease: a not-so-rare disorder. Ann. Plast. Surg. January 2010; 64(1):122-124.
  7. Sia KJ, Tang IP, Tan TY. Multiple symmetrical lipomatosis: case report and literature review. J Laryngol Otol. July 2012; 126(7):756-758.


Other Names for this Disease
  • Benign symmetrical lipomatosis
  • Familial symmetric lipomatosis
  • Launois-Bensaude syndrome
  • Madelung's disease
  • Multiple symmetric lipomatosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.