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Genetic and Rare Diseases Information Center (GARD)

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Adiposis dolorosa


Other Names for this Disease
  • Dercum disease
  • Dercum's disease
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Overview



What is adiposis dolorosa?

What are the signs and symptoms of adiposis dolorosa?

What causes adiposis dolorosa?

Is adiposis dolorosa inherited?

Is genetic testing available for adiposis dolorosa?

How might adiposis dolorosa be treated?


What is adiposis dolorosa?

Adiposis dolorosa is a rare condition characterized by multiple, painful, fatty lipomas (benign, fatty tumors). The condition usually occurs in obese, post-menopausal women but a few cases have been reported in men. The lipomas generally occur anywhere except the face and neck and can cause severe pain. This condition is chronic and tends to be progressive. The exact cause of adiposis dolorosa is unknown.[1] Most cases are sporadic but a few familial cases with autosomal dominant inheritance have been reported. Treatment is focused on the specific symptoms in the affected individual.
Last updated: 11/11/2013

What are the signs and symptoms of adiposis dolorosa?

Adiposis dolorosa is primarily characterized by the development of muliple, painful lipomas (benign, fatty tumors). It is often associated with obesity; physical weakness and lack of energy (asthenia); and various other symptoms including depression, confusion, dementia and/or epilepsy (seizures).[2]

The lipomas occur anywhere in the body except the face and neck. The most common sites are the knees, upper thighs, back and upper arms. They may cause joint pain (arthralgia) when they are near the joints.[2] 
Pain associated with the lipomas can be debilitating; it usually worsens with movement or an increase in body weight.[1] Sparse pubic hair and underarm hair have been reported in some individuals.[2] The condition can also be associated with early congestive heart failure, severe hypothyroidism, joint pain, flushing episodes, tremors, cyanosis, high blood pressure, headaches, and nosebleeds.[1]

Last updated: 11/11/2013

What causes adiposis dolorosa?

The exact cause of adiposis dolorosa remains unknown. Some possible causes have been suggested, although none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers have also suggested that is could be an autoimmune disorder.[1][2]

Because this condition has rarely occurred in more than one individual in some families, it may have a genetic component. However, no specific gene known to be associated with the condition has been identified.[2][3]

It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.[3]
Last updated: 11/11/2013

Is adiposis dolorosa inherited?

Most cases of adiposis dolorosa are sporadic. This means that it usually occurs in an individual with no history of the condition in his/her family. Adiposis dolorosa has rarely been reported to occur in more than one family member; in some of these cases, it appears to have been inherited in an autosomal dominant manner. This means that when an affected individual has children, each child has a 50% (1 in 2) risk to inherit the gene causing the condition. However, no associated genes have been identified.[1][3]
Last updated: 11/11/2013

Is genetic testing available for adiposis dolorosa?

Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. Most cases of adiposis dolorosa are sporadic (not inherited) and no genes known to be associated with adiposis dolorosa have been identified. We are also not aware of laboratories currently offering research genetic testing for this condition.
Last updated: 11/12/2013

How might adiposis dolorosa be treated?

There is no cure for adiposis dolorosa. At the present time, treatment for this condition is symptomatic, meaning that it focuses on addressing each symptom of the condition rather than the underlying cause (which remains unknown). Depending on the person, options can include weight reduction, surgery for painful lipomas, and medications to control pain. Liposuction has been used in some cases.[1]

Pain can sometimes be relieved by injections of steroids such as prednisone or intravenous lidocaine. Interferon alpha 2b for pain relief is being explored as a therapy for some people. Traditional pain relievers, such as aspirin or ibuprofen, usually are not very efficient.[4] 

An article from Medscape Reference provides additional information on treatment for adiposis dolorosa. You may need to register to view the article, but registration is free.
Last updated: 11/11/2013

References
  1. Learning about Dercum Disease. National Human Genome Research Institute. July 2010; http://www.genome.gov/17516629. Accessed 5/13/2011.
  2. Louis Dubertret. Adiposis dolorosa. Orphanet. May, 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=36397. Accessed 11/11/2013.
  3. Adiposis dolorosa. Genetics Home Reference. July, 2012; http://ghr.nlm.nih.gov/condition/adiposis-dolorosa. Accessed 11/11/2013.
  4. Marjan Yousefi, M.D. . Adiposis Dolorosa Treatment & Management. eMedicine. November 2007; http://emedicine.medscape.com/article/1082083-treatment. Accessed 5/13/2011.