close
Dercums disease

What is Dercum’s disease

Dercum disease also known as adiposis dolorosa, Anders’ syndrome and Dercum-Vitaut syndrome, is a rare condition that is characterized by multiple noncancerous (benign), painful fatty tumors (lipomas) that occur chiefly in post-menopausal, overweight or obese women of middle age and signs and symptoms typically appear between ages 35 and 50 1. However, although it is 20 times more common in women, 16 percent of the reported cases are males and it can also occur in people who are not obese. Dercum disease is a chronic condition, meaning that it is a long lasting condition. In addition, it tends to be progressive.

The lipomas are located primarily on the trunk region and on the extremities close to the trunk. These fatty growths may occur anywhere on the body and may range in size from small to quite large. Unlike ordinary lipomas, there is also pain that can be severe and sometimes debilitating. The pain can last for hours, can be paroxysmal (occurring only at certain times) or continuous, and worsens with movement. Dercum disease is often associated with generalized weakness, depression, and irritability.

In people with Dercum’s disease, abnormal fatty tissue or lipomas can occur anywhere on the body but are most often found on the torso, buttocks, and upper parts of the arms and legs. Lipomas usually feel like firm bumps (nodules) under the skin. The growths cause burning or aching that can be severe, particularly if they are pressing on a nearby nerve. In some people, the pain comes and goes, while in others it is continuous. Movement or pressure on adipose tissue or lipomas can make the pain worse. In some cases, lipomas can impair normal movement.

Other signs and symptoms that have been reported to occur with Dercum’s disease include easy bruising, digestive problems, a rapid heartbeat (tachycardia), general weakness and tiredness (fatigue), sleep problems, depression, irritability, confusion, migraine headaches, recurrent seizures (epilepsy), and a progressive decline in memory and intellectual function (dementia). These problems do not occur in everyone with Dercums disease, and it is unclear whether they are directly related to the condition.

Some things that may worsen Dercum’s Disease symptoms are: strenuous physical therapy/exercise, repetitive motions, lack of sleep, poor diet, surgery/anesthesia, steroids, trauma and stress.

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.

Types of Dercum disease

  • Diffuse: The lipomas can be small and diffusely affect the majority of Dercums disease; best palpated by rolling the fingers over the fat tissue. Consider initial exam in the cubital areas and medial knee.
  • Nodular: Lipomas can be the size of a marble, walnut, fist, or larger, localized primarily on the arms, anterior rib cage, abdomen, low back, buttocks and thighs.
  • Mixed: There often is a mixed picture of diffuse and nodular lipomas.

What causes Dercum’s disease?

The understanding of the cause and mechanism of Dercum disease remains unknown. Dercum disease is thought to have a genetic component because a few families with multiple affected family members have been reported. However, no associated genes have been identified. The origin of the pain is obscure, and the disease is better known as a description of its symptoms rather than as a physiologic or metabolic process. The fatty deposits (lipomas) cause nerve compression and result in weakness and pain.

Several other possible causes of Dercum disease have been suggested, although none have been confirmed. They include the use of medications called corticosteroids 2, dysfunction of the endocrine system (which produces hormones), changes in the deposition and breakdown of fat (adipose tissue metabolism) or a genetic cause since it seems to run in some families. Researchers have also suggested that Dercum disease could be an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body’s own tissues and organs. However, there is no firm evidence that Dercum disease is related to abnormal inflammation or other immune system malfunction.

It is unknown why Dercum disease usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.

Is Dercum’s disease inherited?

Dercum disease has been reported to occur in families, and in some of these cases it seems to be inherited as an autosomal dominant trait (this means that one out of a person’s two copies of the gene, inherited from one parent, is altered) with incomplete penetrance 3. However, most reported cases of Dercum disease are sporadic (the only case to occur in the family) 4.

Dercum’s disease symptoms

Dercums disease consists of four cardinal symptoms:

  1. Multiple, painful, fatty masses;
  2. Generalized obesity, usually in menopausal age;
  3. Weakness and fatigability; and
  4. Mental disturbances, including emotional instability, depression, epilepsy, confusion and dementia.

The condition can also be associated with early congestive heart failure, myxedema (a condition associated with severe hypothyroidism), joint pain, paroxysmal flushing episodes, tremors, cyanosis (bluish discoloration of the skin), hypertension (high blood pressure), headaches, and epistaxis (nosebleeds).

Dercums disease is primarily characterized by the development of multiple, painful lipomas (benign growths consisting of fatty tissue). The symptoms of Dercums disease can vary significantly, and not all people have all symptoms. Symptoms that have been widely described include 5:

  • painful lipomas
  • fatigue
  • memory disturbances
  • difficulty forming and expressing thoughts
  • rapid, unexplained weight gain
  • vascular problems (angiolipomas)
  • petechiae
  • easy bruising
  • flushing
  • heavy or prolonged menstrual bleeding
  • unexplained blood in the urine (hematuria)
  • non-pitting edema in subcutaneous fat
  • gastroesophageal reflux (GERD)
  • irritable bowel syndrome and other gastrointestinal problems
  • migraines
  • feeling of fullness
  • joint pain and/or stiffness (especially when fat deposits are present)
  • muscle pain and stiffness
  • shortness of breath
  • tachycardia (rapid heart rate)
  • sleep disturbances (insomnia)
  • depression and/or anxiety

The pain associated with Dercums disease can be debilitating. Due to its chronic and progressive nature, mobility may become a challenge.

Dercums disease diagnosis

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.

The following consultations may be warranted:

  • Psychiatrist: Depression and other psychosomatic symptoms are associated with Dercum disease (adiposis dolorosa). Many patients find they are misjudged and require psychological support.
  • Rheumatologist: A rheumatologic consultation is warranted to rule out osteoarthritis and fibromyalgia.
  • Endocrinologist: An endocrinologic etiology, such as hypothyroidism and Cushing syndrome, should be ruled out.

Criteria for Dercum’s disease diagnosis

In 1901, Roux and Vitaut first proposed the following four cardinal symptoms of Dercum disease (adiposis dolorosa), and these remain the standard for diagnosis of classic disease 6:

  • Multiple, painful, fatty masses
  • Generalized obesity, usually in menopausal age
  • Asthenia
  • Neuropsychiatric disturbances, including emotional instability, depression, epilepsy, confusion, and dementia

As early as 1910, Stern noted that neuropsychiatric disturbances and asthenia did not accompany every case, and numerous case reports were subsequently described without all four cardinal features 7. Therefore, some have lobbied for a “minimal definition” of adiposis dolorosa, which was recently proposed to include the following 8:

  • Generalized obesity
  • Chronic pain (>3 months) in the adipose tissue

Laboratory Studies

Results of hormonal studies to rule out Cushing syndrome, thyroid abnormalities, and other endocrinologic abnormalities are characteristically normal.

Dercum disease (adiposis dolorosa) Patients might have associated slight-to-moderate rises of cholesterol levels.

Erythrocyte sedimentation rate results may be slightly elevated.

Coagulation test results are normal.

In spite of obesity, hypertension and type 2 diabetes mellitus seldom occur.

An increase in certain active parameters is seen in the following: sedimentation rate; alpha-1-antitrypsin; orosomucoid (alpha-1-acid glycoprotein, an acute phase reactant); haptoglobin; and complement factors C3, C4, Clq, and Cls 2.

The heat produced by the fat cells when measured with a microcalorie meter is approximately twice as high as that taken from people who are extremely overweight.

The ratio of monounsaturated fatty acid (16:1, 18:1) in the fatty tissue is greater than that of saturated fatty acid (14:1, 18:0) shown by a comparison with healthy people in controls 9.

The levels of substance P in the cerebrospinal fluid is significantly lower compared with healthy weight-matched controls. However, the average in both cases is above the normal level 10. The level of the neuropeptide Y is on the lower side of normal, and B-endorphin is on the higher side.

Imaging Studies

Ultrasonography and magnetic resonance imaging (MRI) may aid in the diagnosis of Dercum disease (adiposis dolorosa) 11.

On MRI, the lesions appear oblong, and this may be due to septal distortion that is seen on histopathological evaluation. In a study by Tins et al 12 of 13 patients with Dercum disease (adiposis dolorosa), lesions of the condition were found to be markedly hyperechoic on ultrasound, superficial in location, and distinct from characteristic lipomas. Further, when validated on more than 6000 MRIs, they appeared as ill-defined, nodular, “blush-like” subcutaneous fat on unenhanced MRI with a decreased T1-weighted signal. No case of Dercum’s disease was without these features in the study, and the authors concluded that these findings, along with multiple subcutaneous fatty lesions, is “very suggestive and possibly pathognomonic” for the condition.

Histologic Findings

A review of histopathologic findings did not reveal any significant features that might distinguish Dercum disease (adiposis dolorosa) tumors from the common sporadic lipomas. Minor features that were detected include a slight accumulation of perivascular lymphocytes and plasma cells and extremely large fat cells compared with those of healthy controls of similar weight. The tumors can be encapsulated, or the fatty deposits can be diffuse.

Dercum’s disease treatment

There is no “cure” for Dercum disease. Management of Dercum’s disease is difficult. At the present time, treatment for this condition is symptomatic, meaning that it focuses on one symptom at a time rather than the whole condition. No treatments that are currently available have led to long-lasting, complete pain reduction 13. Depending on the person, options can include weight reduction, surgery for the most painful lipomas, and medications to control pain. Liposuction has been used in some cases.

Surgical removal of particularly burdensome lesions and/or liposuction may be helpful for some people. However, lipomas have been known to reoccur and even increase in number at the same site or a nearby location. Weight reduction may help with joint pain in some individuals, but has proven to be difficult to achieve and generally doesn’t offer significant relief of symptoms.

There is currently no drug known to change the course of the disease. Available medications mainly focus on alleviating symptoms and may include 14:

  • prednisone or intravenous lidocaine for pain
  • traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often ineffective), or acetaminophen combined with an opioid analgesic
  • a cortisone/anesthetic injection for localized pain
  • diuretics for swelling of the fingers

Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon α-2b; calcium-channel modulators; and rapid cycling hypobaric pressure 13. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback 14.

Pharmacological treatments

Prednisone, 20 mg daily, has been reported to provide some pain relief 15. However, in one case, the induction of disease was associated with high-dose corticosteroids 2.

Intravenous lidocaine, 400 mg over 15 minutes every other day, has been reported to provide pain relief for 10 hours to several months 16. The exact mechanism of action is uncertain and remains to be elucidated as to whether it is a central effect or due to its effect on blood flow. Long-term intravenous lidocaine therapy has been associated with neurotoxicity.

Traditional analgesics, such as nonsteroidal anti-inflammatory drugs (NSAIDs), have traditionally been thought to have a poor effect. However, a large 2007 series by Herbst concluded that 89% achieved relief when treated with an NSAID, as did 97% when treated with an opiate 17. Acetaminophen combined with an opioid analgesic is the first choice. Localized pain may sometimes be treated with a cortisone/anesthetic injection, alternatively with sterile water given intracutaneously or more deeply.

Other medications

Because of troublesome swelling of the fingers, some patients may require diuretics.

In 2 reported cases of Dercum disease (adiposis dolorosa), interferon (INF) alfa-2b induced long-term relief of pain in 2 patients with adiposis dolorosa and chronic hepatitis C. The analgesic effect of interferon therapy was unexpected and occurred 3 weeks after treatment with 3 million units, 3 times per week, for 6 months. Whether the mechanism of pain relief with interferon is related to its antiviral effect, to the production of endogenous substances (eg, endorphins produced by interferon), or to the interference of interferon with interleukin 1 and tumor necrosis factor-alpha cytokine production, which are involved in cutaneous hyperalgesias, remains unclear 18.

Two Dercum disease (adiposis dolorosa) case reports have described pain relief with daily intake of oral mexiletine, an antiarrhythmic 19.

Singal et al 20 reported improvement of a patient’s Dercum disease (adiposis dolorosa) while on infliximab, with and without methotrexate, for ankylosing spondylitis. The patient experienced recurrent weight gain and lipoma pain with discontinuation of these medications.

Desai et al 21 reported on treatment with a lidocaine (5%) patch and Lange et al 22 reported on successful therapy with pregabalin with manual lymphatic drainage.

Metformin has been used with success in a patient with adiposis dolorosa and associated pain 23. It is thought that the drug may have the capacity to favorably alter the cytokine milieu, impacting such mediators as tumor necrosis factor, interleukin (IL)–1, and leptin. In the report by Labuzek et al 23, each variable was affected moderately by the drug, and it was concluded that the effect of reduction of the inflammatory mediators is additive. Nonetheless, they concluded that other phenomena must contribute to the effects (eg, modulation of synaptic plasticity, activation of microglia).

It should be noted that a study on cytokines in patients with adiposis dolorosa revealed there is no significant difference between these patients and controls with regard to tumor necrosis factor (TNF), leptin, IL-1, and most other mediators. However, patients with disease did demonstrate significantly lower levels of macrophage inhibitory protein-1 beta and higher levels of IL-13 and lower levels of fractalkine, an adipokine whose receptors are characteristically up-regulated in prolonged neuropathic pain 24.

Surgical Care

Liposuction

Liposuction is regarded as a supportive treatment for Dercum disease (adiposis dolorosa) 25. Any skeletal pain is not affected. A significant initial reduction of pain and an improved quality of life is seen; these effects decrease over time 26.

Liposuction is indicated for patients with general lower-body fat or more localized large deposits of fat at the knees, on the arms, on the thighs, or on the stomach as opposed to those with general diffuse pain. In those patients, liposuction is considered a risky operation, requiring about a week of care in the plastic surgery department.

Surgical operation

Excision of isolated painful lipomas that are pressing and causing numbness and tingling, while not preventive, is useful in ameliorating local symptoms of pain.

Dercum’s disease diet

Experience shows that lasting weight reduction by changing the diet is difficult to achieve and does not appreciably affect the pain.

Dercum’s disease

The course is of Dercum disease (adiposis dolorosa) chronic and progressive.

References
  1. About Dercum Disease. https://www.genome.gov/Genetic-Disorders/Dercum-Disease
  2. Greenbaum SS, Varga J. Corticosteroid-induced juxta-articular adiposis dolorosa. Arch Dermatol. 1991 Feb. 127(2):231-3.
  3. Cantu JM, Ruiz-Barquin E, Jimenez M, Castillo L, Macotela-Ruiz E. Autosomal dominant inheritance in adiposis dolorosa (Dercum’s disease). Humangenetik. 1973 Mar 23. 18(1):89-91.
  4. Campen R, Mankin H, Louis DN, Hirano M, Maccollin M. Familial occurrence of adiposis dolorosa. J Am Acad Dermatol. 2001 Jan. 44(1):132-6.
  5. Dercum’s Disease. https://www.fatdisorders.org/dercums
  6. Hansson E, Svensson H, Brorson H. Depression in Dercum’s disease and in obesity: a case control study. BMC Psychiatry. 2012 Jul 3. 12:74.
  7. Stern H. Adiposis dolorosa with myxoedematous manifestations. Am J Med Sci. 1910. 139:359-63.
  8. Hansson E, Svensson H, Brorson H. Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management. Orphanet J Rare Dis. 2012 Apr 30. 7:23.
  9. Freedberg IM, Eisen AZ, Wolff K et al, eds. Neoplasms of subcutaneous fat. Dermatology in General Medicine. 5th ed. New York, NY: McGraw-Hill; 1999. Vol 1: 1348-9.
  10. Hansson E, Manjer J, Svensson H, Åberg M, Fagher B, Ekman R, et al. Neuropeptide levels in Dercum’s disease (adiposis dolorosa). Reumatismo. 2012 Jul 19. 64(3):134-41.
  11. Petscavage-Thomas JM, Walker EA, Bernard SA, Bennett J. Imaging findings of adiposis dolorosa vs. massive localized lymphedema. Skeletal Radiol. 2015 Jun. 44 (6):839-47
  12. Tins BJ, Matthews C, Haddaway M, Cassar-Pullicino VN, Lalam R, Singh J, et al. Adiposis dolorosa (Dercum’s disease): MRI and ultrasound appearances. Clin Radiol. 2013 Oct. 68(10):1047-53.
  13. Emma Hansson, Henry Svensson, and Håkan Brorson. Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management. Orphanet J Rare Dis. 2012; 7: http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-23
  14. Adiposis Dolorosa. https://emedicine.medscape.com/article/1082083-overview
  15. Palmer ED. Dercum’s disease: adiposis dolorosa. Am Fam Physician. 1981 Nov. 24(5):155-7.
  16. Petersen P, Kastrup J. Dercum’s disease (adiposis dolorosa). Treatment of the severe pain with intravenous lidocaine. Pain. 1987 Jan. 28(1):77-80.
  17. Herbst KL, Asare-Bediako S. Adiposis Dolorosa is More than Painful Fat. Endocrinologist. 2007 Nov/Dec. 76(6):326-34.
  18. Gonciarz Z, Mazur W, Hartleb J, et al. Interferon alfa-2b induced long-term relief of pain in two patients with adiposis dolorosa and chronic hepatitis C. J Hepatol. 1997 Dec. 27(6):1141.
  19. Steiner J, Schiltz K, Heidenreich F, Weissenborn K. [Lipomatosis dolorosa–a frequently overlooked disease picture]. Nervenarzt. 2002 Feb. 73(2):183-7.
  20. Singal A, Janiga JJ, Bossenbroek NM, Lim HW. Dercum’s disease (adiposis dolorosa): a report of improvement with infliximab and methotrexate. J Eur Acad Dermatol Venereol. 2007 May. 21(5):717.
  21. Desai MJ, Siriki R, Wang D. Treatment of pain in Dercum’s disease with Lidoderm (lidocaine 5% patch): a case report. Pain Med. 2008 Nov. 9(8):1224-6.
  22. Lange U, Oelzner P, Uhlemann C. Dercum’s disease (Lipomatosis dolorosa): successful therapy with pregabalin and manual lymphatic drainage and a current overview. Rheumatol Int. 2008 Nov. 29(1):17-22.
  23. Labuzek K, Liber S, Suchy D, Okopieå BA. A successful case of pain management using metformin in a patient with adiposis dolorosa. Int J Clin Pharmacol Ther. 2013 Jun. 51(6):517-24.
  24. Herbst KL, Coviello AD, Chang A, Boyle DL. Lipomatosis-associated inflammation and excess collagen may contribute to lower relative resting energy expenditure in women with adiposis dolorosa. Int J Obes (Lond). 2009 Sep. 33(9):1031-8.
  25. Hansson E, Svensson H, Brorson H. Liposuction may reduce pain in Dercum’s disease (adiposis dolorosa). Pain Med. 2011 Jun. 12(6):942-52.
  26. Wollina U, Heinig B, Langner D, Nowak A. Juxta-articular adiposis dolorosa (Dercum’s disease type IV): report of four cases and treatment by dermolipectomy. Wien Med Wochenschr. 2015 Sep. 165 (17-18):374-7.
Health Jade Team

The author Health Jade Team

Health Jade