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Madelung's Disease

Synonyms of Madelung's Disease

  • Benign Symmetrical Lipomatosis
  • Launois-Bensaude
  • MSL
  • Multiple Symmetric Lipomatosis

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Madelung's disease is a disorder of fat metabolism (lipid storage) that results in an unusual accumulation of fat deposits around the neck and shoulder areas. Adult alcoholic males are most often affected, although women and those who do not drink alcohol can also get Madelung's disease.

Symptoms

Madelung's disease is characterized by massive deposits of fatty tumors (lipoma) located symmetrically around the neck, and on the shoulders, upper arms and upper trunk. These abnormal fat deposits may grow rapidly over the course of months or more slowly over a period of years. The rest of the body may be lean in contrast to the affected parts. The fatty deposits do not indicate malignancy and, while disfiguring, may not impair functioning.

Peripheral neuropathy, or impaired function of the nerves in the arms and legs, often accompanies Madelung's disease, especially as the affected person grows older. However, these neurological deficits may be difficult to distinguish from the long-term effects of alcoholism when overuse of alcohol is a factor.

Sometimes, there are metabolic abnormalities and other diseases associated with Madelung's disease. These may include diabetes mellitus, hypertension, and liver disease.

Causes

The exact cause of Madelung's disease is not known. The body's inability to properly metabolize fat indicates that it may be an endocrine disorder. Some scientists believe a predisposition to the disorder may be inherited and there have been some reports of cases that appear to be familial. However, the mode of transmission in those cases has not been determined.

Affected Populations

Madelung's disease most frequently affects middle-aged males. The condition is most common in those who abuse alcohol. However, this disease is also found in women and persons who do not consume alcohol. For reasons that are unclear, the disorder appears to be more prevalent in Europe than in the United States.

Related Disorders

Dercum disease
Dercum Disease is a rare disorder characterized by multiple, painful fatty deposits (lipomas), primarily on the trunk, forearms, and lower legs. It is associated with pain that may be caused by these deposits pressing on nearby nerves.

This disorder usually occurs in obese females between the ages of 45 and 60. Various areas of the body may swell for no apparent reason. The swelling may disappear without treatment, leaving hardened tissue or pendulous skin folds. In some cases, affected individuals may also experience depression, lethargy, and/or confusion. (For more information on this disorder, choose "Dercum Disease" as your search term in the Rare Disease Database.)

Lipomas
Lipomas are single, painless lumps that most often appear in older women. Varying in size from a dime to a quarter, they are composed of fatty tissue. They are slow growing, soft, and movable. Doctors often recommend laboratory examination of a sample of the tissue (a biopsy), or complete removal, to confirm a diagnosis.

Lymphatic tumor
A lymphatic tumor is also called a lymphoma. It is a cancer involving cells of the lymphatic system. Hodgkin's disease is the most common lymphoma in the general population. Among children, however, several other types of lymphoma, classified together as non-Hodgkin's lymphoma, are more likely to occur. Unlike Hodgkin's disease, non-Hodgkin's lymphoma can run in families. Boys are affected more often than girls. Fortunately, this kind of lymphoma is highly treatable, and the cure rate is excellent, particularly if the illness is detected early. There are three major types of non-Hodgkin's lymphoma, classified on the basis of the type of lymphatic cell (lymphocyte) involved and the organs affected at the time of diagnosis. (For more information on this disorder, choose "Hodgkin's Disease" as your search term in the Rare Disease Database.)

Sialadenitis
Madelung's disease is sometimes misdiagnosed as sialadenitis, an inflammation of the salivary glands. The inflammation may involve any of the glands that make up the salivary gland system (parotid, submandibular and sublingual glands).

Standard Therapies

Diagnosis
The diagnosis of Madelung's disease may involve ultrasound images, CAT scans, or magnetic resonance imaging.

Treatment
Treatment consists of surgical removal of the fatty deposits from the areas around the head, neck, shoulders and trunk. Liposuction has been used successfully to remove single fatty tumors.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Madelung's Disease

References

TEXTBOOKS
Foster DW, The lipodystrophies and other rare disorders of adipose tissue. In: Fauci AS et al., eds. Harrison's Principles of Internal Medicine. New York, NY. McGraw-Hill Companies, Inc; 1998;2212.

REVIEW ARTICLES
Lee HW, Kim TH, Cho JW, et al. Multiple symmetric lipomatosis: Korean experience. Dermatol Surg. 2003;29:235-40.

Cossarizza A, Mussini C, Vigano A. Mitochondria in the pathogenesis of lipodystrophy induced by anti-HIV antiretroviral drugs: actors or bystanders? Bioessays. 2001;23:1070-80.

Kakuda TN. Pharmacology of nucleoside and nucleotide reverse transcriptase inhibitor-induced mitochondrial toxicity. Clin Ther. 2000;22:685-708.

JOURNAL ARTICLES
Gonzalez-Garcia R, Rodriguez-Campos FJ, Sastre-Perez J, et al. Benign Symmetric Lipomatosis (Madelung's Disease): Case reports and Current Management. Aesthetic Plast Surg. 2004 May 28[Epub ahead of print]

Verhelle NA, Nizet JL, Van den Hof B, et al. Liposuction in benign symmetric lipomatosis: sense or senseless? Aesthetic Plast Surg. 2003;27:319-21.

Busetto L, Strater D, Enzi G, et al. Differential clinical expression of multiple symmetric lipomatosis in men and women. Int J Obes Relat Metab Disord. 2003;27:1419-22.

Morelli F, De Benedetto A, Toto P, et al. Alcoholism as a trigger of multiple symmetric lipomatosis? J Eur Acad Dermatol Venereol. 2003;17:367-69.

Enzi G, Busetto L, Ceschin E, et al. Multiple symmetric lipomatosis: clinical aspects and outcomes in a long-term longitudinal study. Int J Obes Relat Metab Disord. 2002;26:253-61.

Ujpal M, Nemeth ZS, Reichwein A, et al. Long-term results following surgical treatment of benign symmetric lipomatosis (BSL). Int J Oral Maxillofac Surg. 2001;30:479-83.

FROM THE INTERNET
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Lipomatosis, Familial Benign Cervical. Entry Number; 151800: Last Edit Date; 7/7/1997.

Madelungs Disease: Inherited from an Ancient Mediterranean Population. 1999.
http://content.nejm.org/cgi/content/short/340/19/1481

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2005/04/01 00:00:00 GMT+0

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