Adiposis dolorosa

Adiposis dolorosa
Classification and external resources
Synonyms Dercum's disease
Specialty endocrinology
ICD-10 E88.2
ICD-9-CM 272.8
OMIM 103200
DiseasesDB 29660
eMedicine derm/839
MeSH D000274
Orphanet 36397

Adiposis dolorosa, also known as Dercum's disease,[1] is a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities.[2] The understanding of the cause and mechanism of Dercum disease remains unknown.[3] Possible causes include nervous system dysfunction, mechanical pressure on nerves, adipose tissue dysfunction, and trauma.[4]

Dercum's disease was first described at Jefferson Medical College by neurologist Francis Xavier Dercum in 1892.[5]

Mechanisms

There are currently no known mechanisms for this disease.

Signs and symptoms

Four cardinal symptoms have sometimes been used as diagnostic criteria.

1) painful, fatty lipomas (benign fatty tumors) across anatomy

2) obesity, frequently in menopausal age

3) weakness and fatigue

4) emotional instability, depression, epilepsy, confusion, and dementia.

There are also potential signs of the disease which are identified as the following:

However, as it is unclear which symptoms are cardinal and which symptoms are minor signs in Dercum’s disease, it is unclear which should be used as diagnostic criteria. Researchers have proposed a 'minimal definition' based on symptoms most often part of Dercum's disease: 1) Generalized overweight or obesity. 2) Chronic pain in the adipose tissue.[4] The associated symptoms in Dercum’s disease include obesity, fatty deposits, easy bruisability, sleep disturbances, impaired memory, depression, difficulty concentrating, anxiety, rapid heartbeat, shortness of breath, diabetes, bloating, constipation, fatigue, weakness and joint and muscle aches.[5] Regarding the associated symptoms in Dercum’s disease, only case reports have been published. No study involving medical examinations has been performed in a large group of patients.[4]

Causes and Prevention

There are no currently known causes of this disease. There are studies currently proposing several theories of the causes which include inflammation of the adipose tissue, nervous system malfunction and endocrine malfunction. None of the theories that are currently proposed have been found viable.[6] Since little is known about Dercum's Disease, there are currently no known modes of prevention. Some theories state that maintaining a healthy weight and diet can help prevent Dercum's although it has not been proven.

Dercum's disease can affect people of any gender and of any age. The majority of cases are linked to women between the ages of 45 and 60, that are overweight and postmenopausal. Due to the difficulty of diagnosis of this disease, many cases are underreported or misdiagnosed and it is difficult to understand what part of the population is affected by it the most.[7]

Diagnosis

Diagnosis of Dercum's disease is done through a physical examination. In order to properly diagnose the patient, the doctor must first exclude all other possible differential diagnosis. The basic criteria for Dercum's disease is patients with chronic pain in the adipose tissue (body fat) and patients that are also obese. Although rare the diagnosis does not have to include obesity.[8] Dercum's disease can also be inherited and a family medical history may aid in the diagnosis of this disease.[9] There are no specific laboratory test for this disease. Ultrasound and Magnetic Resonance Imaging can play a role in diagnosis.[10]

Treatment and Prognosis

Common treatments for Dercum's disease is directed towards treating the individual symptoms. Pain relief medication may be administered to temporarily reduce the discomfort in the patient. Cortisone shots have also been shown to be effective in temporarily reducing the chronic pain. Surgical removal of the damaged adipose tissue can be effective, but often the disease will recur.[7] Once a person has Dercum's disease then they will likely have pain for the rest of their life. Studies have only shown temporary pain relief in patients. Long term the person with Dercum's disease will need to take prescription drugs for pain relief to ensure quality of life. The disease will cause chronic and severe pain for the rest of a persons life.[8] There are several holistic treatments for this disease. Acupuncture, hypnosis and cognitive behavior therapy have been attempted to help people with Dercum's disease.[7]

Few convincing large studies on the treatment of Dercum’s disease have been conducted. Most of the different treatment strategies that exist are based on case reports.[4] Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of Dercum's disease.[11][12] Not enough studies have been done to substantiate that diet and supplements could help with the disease.

Treatment methods include the following modalities:

Surgery

Surgical excision of fatty tissue deposits around joints (liposuction) has been used in some cases.[13] It may temporarily relieve symptoms although recurrences often develop.

Medication

Traditional analgesics

The pain in Dercum’s disease is often reported to be refractory to analgesics and to non-steroidal anti-inflammatory drugs (NSAIDs). However, this has been contradicted by the findings of Herbst et al. They reported that the pain diminished in 89% of patients (n=89) when treated with NSAIDs and in 97% of patients when treated with narcotic analgesics (n=37). The dosage required and the duration of the pain relief are not precisely stated in the article.[4][14]

Lidocaine

An early report from 1934 showed that intralesional injections of procaine (Novocain®) relieved pain in six cases. More recently, other types of local treatment of painful sites with lidocaine patches (5%) (Lidoderm®) or lidocaine/prilocaine (25 mg/25 mg) cream (EMLA®) have shown a reduction of pain in a few cases.[4]

In the 1980s, treatment with intravenous infusions of lidocaine (Xylocaine®) in varying doses was reported in nine patients. The resulting pain relief lasted from 10 hours to 12 months. In five of the cases, the lidocaine treatment was combined with mexiletine (Mexitil®), which is a class 1B anti-arrhythmic with similar pharmacological properties as lidocaine. The mechanism by which lidocaine reduces pain in Dercum’s disease is unclear. It may block impulse conduction in peripheral nerves, and thereby disconnect abnormal nervous impulse circuits. Nonetheless, it might also depress cerebral activity that could lead to increased pain thresholds. Iwane et al. performed an EEG during the administration of intravenous lidocaine. The EEG showed slow waves appearing 7 minutes after the start of the infusion and disappearing within 20 minutes after the end of the infusion. On the other hand, the pain relief effect was the greatest at about 20 minutes after the end of the infusion.[4]

Based on this, the authors concluded that the effect of lidocaine on peripheral nerves most likely explains why the drug has an effect on pain in Dercum’s disease. In contrast, Atkinson et al. have suggested that an effect on the central nervous system is more likely, as lidocaine can depress consciousness and decrease cerebral metabolism. In addition, Skagen et al. demonstrated that a patient with Dercum’s disease lacked the vasoconstrictor response to arm and leg lowering, which indicated that the sympathicusmediated local veno-arteriolar reflex was absent. This could suggest increased sympathetic activity. An infusion of lidocaine increased blood flow in subcutaneous tissue and normalised the vasoconstrictor response when the limbs were lowered. The authors suggested that the pain relief was caused by a normalisation of up-regulated sympathetic activity.[4]

Methotrexate and infliximab

One patient’s symptoms were improved with methotrexate and infliximab. However, in another patient with Dercum’s disease, the effect of methotrexate was discreet. The mechanism of action is unclear. Previously, methotrexate has been shown to reduce neuropathic pain caused by peripheral nerve injury in a study on rats. The mechanism in the rat study case was thought to be a decrease in microglial activation subsequent to nerve injury. Furthermore, a study has shown that infliximab reduces neuropathic pain in patients with central nervous system sarcoidosis. The mechanism is thought to be mediated by tumour necrosis factor inhibition.[4]

Interferon α-2b

Two patients were successfully treated with interferon α-2b. The authors speculated on whether the mechanism could be the antiviral effect of the drug, the production of endogenous substances, such as endorphins, or interference with the production of interleukin-1 and tumour necrosis factor. Interleukin-1 and tumour necrosis factor are involved in cutaneous hyperalgesia.[4]

Corticosteroids

A few patients noted some improvement when treated with systemic corticosteroids (prednisolone), whereas others experienced worsening of the pain. Weinberg et al. treated two patients with juxta-articular Dercum’s disease with intralesional injections of methylprednisolone (Depo-Medrol). The patients experienced a dramatic improvement. The mechanism for the pain-reducing ability of corticosteroids in some conditions is unknown. One theory is that they inhibit the effects of substances, such as histamine, serotonin, bradykinin, and prostaglandins. As the aetiology of Dercum’s disease is probably not inflammatory, it is plausible that the improvement some of the patients experience when using corticosteroids is not caused by an anti-inflammatory effect.[4]

Alternative Treatment

CVAC sessions

Cyclic Variations in Adaptive Conditioning (CVAC) is a method of touch free cyclic hypobaric pneumatic compression for treatment of tissue edema and, therefore, edema-associated pain. As a pilot study, 10 participants with AD completed pain and quality of life questionnaires before and after 20–40 minutes of CVAC process daily for 5 days. After treatment, there was a significant decrease in pain as measured by the Pain Catastrophizing Scale and the Visual Analogue Scale, but there was no change in pain quality by the McGill Pain Questionnaire. However, there were no changes in the Pain Disability Index or Pittsburgh Sleep Quality Index. This study suggests a potential treatment role for CVAC, and the authors recommended randomized controlled clinical trials.[15][16]

Epidemiology

Dercum’s disease most commonly appears between the ages of 35 and 50 years of age.[4] It is five to thirty times more common in women than in men.[4] Originally, Dercum proposed that the condition mainly affects postmenopausal women. However, a 2007 survey has revealed that 85.7 percent of the included patients developed Dercum’s disease before menopause.[4] The prevalence of Dercum’s disease has not yet been exactly established.[4]

Recent Research

Recent research into treatments for Dercum's disease has identified liposuction as a possible treatment. The researchers wanted to assess the use of liposuction on the affected adipose tissue to see if pain was reduced in the affected patient. The results of this study suggested that pain was reduced in patients for a short period of time. As time had passed the patients pain level had once again increased. The study found that pain was reduced only for a period of time and that all symptoms had come back within 5 years.[17] Other recent treatments include Transcutaneous Electrical Stimulation has in one case proven to safely and effectively reduce the symptoms of the disease. This type of therapy is typically used in the treatment of painful inflammatory conditions. Treatments included 10 consecutive sessions over a 6-month period. After 4 months of treatment pain was reduced and after 6 months of treatment pain was even further reduced.[18]

References

  1. ↑ Dercum's disease or syndrome at Who Named It?
  2. ↑ "Learning About Dercum Disease". www.genome.gov. Retrieved 2015-11-05.
  3. ↑ "Learning About Dercum Disease". National Human Genome Research Institute. 2012-06-27. Retrieved 2013-12-21.
  4. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 Hansson, Emma; Svensson, Henry; Brorson, Håkan (2012). "Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management" (PDF). Orphanet Journal of Rare Diseases (BioMed Central) 7: 23. doi:10.1186/1750-1172-7-23. PMC 3444313. PMID 22546240.
  5. 1 2 Adiposis Dolorosa at eMedicine
  6. ↑ Adiposis Dolorosa~clinical at eMedicine
  7. 1 2 3 "Dercum's Disease - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-11-05.
  8. 1 2 Hansson, Emma; Svensson, Henry; Brorson, Håkan (2012-04-30). "Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management". Orphanet Journal of Rare Diseases 7: 23. doi:10.1186/1750-1172-7-23. ISSN 1750-1172. PMC 3444313. PMID 22546240.
  9. ↑ Hansson, Emma; Svensson, Henry; Brorson, Håkan (2012-04-30). "Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management". Orphanet Journal of Rare Diseases 7 (1): 23. doi:10.1186/1750-1172-7-23. ISSN 1750-1172. PMC 3444313. PMID 22546240.
  10. ↑ Tins, B.J.; Matthews, C.; Haddaway, M.; Cassar-Pullicino, V.N.; Lalam, R.; Singh, J.; Tyrrell, P.N.M. (27 June 2013). "Adiposis dolorosa (Dercum's disease): MRI and ultrasound appearances". Clinical Radiology (Elsevier) 68 (10): 1047. doi:10.1016/j.crad.2013.05.004. Retrieved 2013-12-08.
  11. ↑ "Dercum's disease". Natural Retail Group. Archived from the original on 2012-03-30.
  12. ↑ "Dercum's disease". Natural Standard Professional Database. Retrieved 2013-12-22.(registration required)
  13. ↑ De Silva, M; Earley, MJ (1990). "Liposuction in the treatment of juxta-articular adiposis dolorosa". Annals of the Rheumatic Diseases 49 (6): 403–404. doi:10.1136/ard.49.6.403. PMC 1004110. PMID 2383065.
  14. ↑ Herbst, Karen L.; Asare-Bediako, Sheila (November 2007). "Adiposis Dolorosa Is More Than Painful Fat". The Endocrinologist 17 (6): 326–334. doi:10.1097/TEN.0b013e31815942294.
  15. ↑ Herbst, KL; Rutledge, T (2010). "Pilot study: Rapidly cycling hypobaric pressure improves pain after 5 days in adiposis dolorosa". Journal of pain research 3: 147–153. doi:10.2147/JPR.S12351. PMC 3004643. PMID 21197318.
  16. ↑ http://www.cvacsystems.com/index.php/terms
  17. ↑ Hansson, Emma; Svensson, Henry; Brorson, Håkan (2011-06-01). "Liposuction may reduce pain in Dercum's disease (adiposis dolorosa)". Pain Medicine 12 (6): 942–952. doi:10.1111/j.1526-4637.2011.01101.x. ISSN 1526-4637. PMID 21481169.
  18. ↑ Martinenghi, Sabina; Caretto, Amelia; Losio, Claudio; Scavini, Marina; Bosi, Emanuele (2015-06-19). "Successful Treatment of Dercum's Disease by Transcutaneous Electrical Stimulation". Medicine 94 (24). doi:10.1097/MD.0000000000000950. ISSN 0025-7974. PMC 4616524. PMID 26091459.

External links

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