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NORD is very grateful to Rebecca Campen, MD, J.D. Assistant Professor, Harvard Medical School Assistant in Dermatology, Massachusetts General Hospital, for assistance in the preparation of this report.
Dercum's disease is an extremely rare disorder characterized by multiple, painful growths consisting of fatty tissue (lipomas). These growths mainly occur on the trunk, the upper arms and upper legs and are found just below the skin (subcutaneously). Pain associated with Dercum's disease can often be severe. Pain may be caused by these growths pressing on nearby nerves. Dercum's disease mainly occurs in adults and more women are affected than men. In some cases, affected individuals may also experience weight gain, depression, lethargy, and/or confusion. The exact cause of Dercum's disease is unknown.
The characteristic finding of Dercum's disease is the slow formation of multiple, painful growths consisting of fatty tissue (lipomas) that are found just below the surface of the skin. Pain may vary from mild discomfort when a growth is pressed or touched to severe pain that is disproportionate to the physical findings. Some affected individuals feel that "all fat hurts." Pain can last for hours and may come and go or last continuously. In severe cases, pain may worsen with movement. The exact reason for pain associated with Dercum's disease is unknown, but may occur because the lipomas press on nearby nerves. Lipomas may be found in any part of the body, although they are rare in the head and neck. The trunk, upper arms and upper legs are most often affected.
Some individuals with Dercum's may experience swelling of various areas of the body, especially the hands. Swelling occurs for no apparent reason and often disappears without treatment. Significant weight gain is a common occurrence for most individuals affected by Dercum's disease.
Additional symptoms may occur in individuals with Dercum's disease including fatigue, generalized weakness, a tendency to bruise easily, headaches, irritability, and stiffness after resting, especially in the morning. An association with bouts of depression, memory or concentration problems, and a susceptibility to infection has been noted in some cases.
Additional reports in the medical literature have linked Dercum's disease to a variety of conditions including arthritis, high blood pressure (hypertension), congestive heart failure, sleep disorders, dry eyes, and myxedema, a condition due to an underactive thyroid that is characterized by dry skin, swelling around the lips and nose, and mental deterioration.
The exact cause of Dercum's disease is unknown. In most cases, Dercum's disease appears to occur spontaneously for no apparent reason (sporadic).
Some reports in the medical literature have suggested that Dercum's disease may be an autoimmune disorder- a disorder in which the body's immune system mistakenly attacks healthy tissue. Disturbances in endocrine function and improper breakdown (metabolism) of fat have also been proposed as potentially playing a role the development of the disorder. One cases reported in the medical literature was linked to the use of high-doses of corticosteroids.
Some cases of Dercum's disease have run in families and several reports in the medical literature cite the possibility that the disorder may be inherited as an autosomal dominant trait in these cases. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.
Dercum's disease affects females more often than males with some reports citing the disease is as 20 times more common in women. Dercum's disease can affect individuals of any age. The majority of cases are women between the ages of 45-60, especially overweight, postmenopausal women. Although an extremely rare occurrence, it has been reported in children. The prevalence of Dercum's disease is unknown. The disorder is underdiagnosed, making it difficult to determine its true frequency in the general population. Dercum's disease was first described in the medical literature in 1882 by an American neurologist named Francis Xavier Dercum's.
Symptoms of the following disorders can be similar to those of Dercum's disease. Comparisons may be useful for a differential diagnosis.
Madelung's disease, also known as benign symmetrical lipomatosis, is a rare disorder affecting the breakdown (metabolism) of fats. Madelung's disease results in the abnormal accumulation of fat deposits or masses around the neck, shoulders, upper arms and upper back. Adult male alcoholics are most often affected, although women and people who do not drink can also develop Madelung's disease. (For more information on this disorder, choose "Madelung's" as your search term in the Rare Disease Database.)
Fibromyalgia is a chronic disorder characterized by pain throughout the muscles of the body and abnormally persistent episodes of fatigue. The pain may begin gradually or have a sudden onset. Additional symptoms may include muscle spasms and stiffness. The parts of the body most frequently affected are the back of the neck, shoulders, lower back, elbows, hips, and/or knees. In addition, small specific areas known as "tender points" are typically painful when pressure is applied to them. Some people with fibromyalgia may also experience chest pain, difficulty concentrating, headaches, painful and/or frequent urination, diarrhea, constipation, numbness of the mouth, and/or unrefreshing (non-restorative) sleep. (For more information on this disorder, choose "Fibromyalgia" as your search term in the Rare Disease Database.)
Familial multiple lipmatosis is a rare genetic disorder characterized by the formation of multiple benign masses or growths of fatty tissue (lipomas) that most often affect the arms and legs (extremities). The size and number of lipomas varies from case to case. Some individuals may develop hundreds of small lipomas that do not cause symptoms (asymptomatic). Unlike Dercum's disease, the lipomas do not cause pain. The neck and shoulders are usually not affected. Onset of this disorder is usually during adolescence. Familial multiple lipomatosis is inherited as an autosomal dominant trait.
Several disorders are characterized by the development of benign (noncancerous) growths consisting of fatty tissue (lipomas) including Proteus syndrome, PTEN harmatoma syndrome, and Gardner syndrome. These disorders often have additional symptoms that can distinguish them from Dercum's disease. (For more information on this disorder, choose the exact disorder name as your search term in the Rare Disease Database.)
A diagnosis of Dercum's disease is suspected based on a detailed patient history, a thorough clinical evaluation and identification of characteristic multiple fatty growths. Surgical removal and microscopic study (biopsy) of affect tissue confirms that these growths are lipomas.
No specific treatment exists for Dercum's disease. Treatment is directed toward the specific symptoms that are apparent in each individual and is primarily focus on easing the characteristic painful episodes.
Various painkillers (analgesics) have been tried with limited effectiveness. Injections of corticosteroids have also been used to treat individuals with Dercum's disease. However, in one reported case in the medical literature, the use of high-doses of corticosteroids was linked as a possible cause of the disease. Intravenous administration of the pain reliever lidocaine may provide temporary relief from pain in some cases. Cortisone injections to treat localized pain may also provide relief.
Surgical excision of fatty tissue deposits around joints may temporarily relieve symptoms although recurrences often develop. Liposuction has been used as a supportive treatment for some individuals with Dercum's disease and may provide an initial reduction in pain and improvement in quality of life. These effects may lessen over time.
Psychotherapy and consultation with pain management specialists may be helpful for enabling affected individuals to cope with long-term intense pain. Other treatment is symptomatic and supportive.
Researchers are studying the use of interferon alfa-2b a potential treatment for individuals with Dercum's disease. Two individuals with Dercum's disease who received this treatment for hepatitis C saw improved in the symptoms associated with Dercum's disease. More research is necessary to determine the long-term safety and effectiveness of interferon alfa-2b as a potential therapy for this disorder.
Alternative approaches including acupuncture, hypnosis, biofeedback and cognitive behavior therapy have also been tried for individuals with Dercum's disease.
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Report last updated: 2012/01/19 00:00:00 GMT+0