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| {{Infobox medical condition (new) | | {{Short description|A rare condition characterized by painful lipomas}} |
| | name = Adiposis dolorosa
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| | synonyms = Dercum's disease, Anders disease
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| | image = Nervous and mental diseases (1919) (14781727145).jpg
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| '''Adiposis dolorosa''', also known as '''Dercum's disease'''<ref>{{WhoNamedIt|synd|1453|Dercum's disease or syndrome}}</ref> or '''Anders disease''', is a rare condition characterized by generalized obesity and [[Lipoma|fatty tumors]] in the [[adipose tissue]]. The tumors are normally painful and found in multiples on the extremities.<ref name=":1">{{Cite web|title = Learning About Dercum Disease|url = https://www.genome.gov/17516629|website = www.genome.gov|accessdate = 2015-11-05}}</ref> The cause and mechanism of Dercum's disease remains unknown.<ref name="genome">{{cite web|url=http://www.genome.gov/17516629 |title=Learning About Dercum Disease |publisher=[[National Human Genome Research Institute]] |date=2012-06-27 |accessdate=2013-12-21|url-status = live}}</ref> Possible causes include nervous system dysfunction, mechanical pressure on nerves, adipose tissue dysfunction and trauma.<ref name="ojrd.com">{{Cite journal|doi=10.1186/1750-1172-7-23|url=http://www.ojrd.com/content/pdf/1750-1172-7-23.pdf|title=Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management|year=2012|last1=Hansson|first1=Emma|last2=Svensson|first2=Henry|last3=Brorson|first3=Håkan|journal=Orphanet Journal of Rare Diseases|volume=7|page=23|pmid=22546240|pmc=3444313|publisher = BioMed Central}}</ref>
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| Dercum's disease was first described at Jefferson Medical College by neurologist [[Francis Xavier Dercum]] in 1892.<ref name=EMedicine1082083>{{EMedicine|article|1082083|Adiposis Dolorosa}}</ref> | | '''Adiposis dolorosa''', also known as '''Dercum's disease''', is a rare condition characterized by multiple painful [[lipomas]], which are benign tumors composed of [[adipose tissue]]. This condition predominantly affects [[adults]] and is more common in [[women]] than in [[men]]. |
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| ==Signs and symptoms== | | ==Signs and symptoms== |
| | Individuals with adiposis dolorosa typically present with multiple, painful lipomas located primarily on the [[trunk]], [[upper arms]], and [[upper legs]]. The pain associated with these lipomas can be severe and is often described as burning or aching. In addition to the lipomas, patients may experience [[fatigue]], [[weakness]], and [[emotional disturbances]] such as [[depression]] and [[anxiety]]. |
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| Four cardinal symptoms have sometimes been used as diagnostic criteria:
| | ==Pathophysiology== |
| | | The exact cause of adiposis dolorosa is not well understood. It is believed to involve abnormalities in the [[nervous system]] and [[adipose tissue]] metabolism. Some researchers suggest that the pain may be due to [[nerve compression]] by the lipomas or an inflammatory process within the adipose tissue. There is also evidence to suggest a possible [[genetic]] component, as the condition can run in families. |
| # painful, fatty lipomas (benign fatty tumors) across anatomy
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| # obesity, frequently in menopausal age
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| # weakness and fatigue
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| # emotional instability, depression, epilepsy, confusion and dementia.
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| There are also potential signs of the disease which are identified as the following:
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| {{columns-list|colwidth=30em|
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| * being bruised easily
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| * trouble with sleeping
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| * memory issues
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| * elevated heart rate
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| * difficulty with concentration
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| * joint aches
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| * shortness of breath
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| }}
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| 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.<ref name="ojrd.com" /> 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.<ref name=EMedicine1082083/> 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.<ref name="ojrd.com" />
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| ==Causes==
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| 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.<ref>{{EMedicine|article|1082083|Adiposis Dolorosa|clinical}}</ref> Since little is known about Dercum's disease, there are currently no known modes of prevention.
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| == Mechanisms ==
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| There are currently no known mechanisms for this disease.
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| ==Diagnosis== | | ==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 are patients with chronic pain in the adipose tissue (body fat) and patients who are also obese. Although rare, the diagnosis may not include obesity.<ref name="Hansson 23">{{Cite journal|title = Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management|journal = Orphanet Journal of Rare Diseases|date = 2012-04-30|issn = 1750-1172|pmc = 3444313|pmid = 22546240|pages = 23|volume = 7|doi = 10.1186/1750-1172-7-23|first = Emma|last = Hansson|first2 = Henry|last2 = Svensson|first3 = Håkan|last3 = Brorson}}</ref> Dercum's disease can also be inherited and a family medical history may aid in the diagnosis of this disease.<ref name=":0">{{Cite journal|title = Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management|journal = Orphanet Journal of Rare Diseases|date = 2012-04-30|issn = 1750-1172|pmc = 3444313|pmid = 22546240|pages = 23|volume = 7|issue = 1|doi = 10.1186/1750-1172-7-23|first = Emma|last = Hansson|first2 = Henry|last2 = Svensson|first3 = Håkan|last3 = Brorson}}</ref> There are no specific laboratory test for this disease. [[Ultrasound]] and [[magnetic resonance imaging]] can play a role in diagnosis.<ref name="MRI & Ultrasound Appearances">{{cite journal|title=Adiposis dolorosa (Dercum's disease): MRI and ultrasound appearances |publisher=Elsevier |journal=Clinical Radiology |date=27 June 2013 |doi=10.1016/j.crad.2013.05.004|pmid = 23809264|last1=Tins|first1=B.J.|last2=Matthews|first2=C.|last3=Haddaway|first3=M.|last4=Cassar-Pullicino|first4=V.N.|last5=Lalam|first5=R.|last6=Singh|first6=J.|last7=Tyrrell|first7=P.N.M.|volume=68|issue=10|pages = 1047–53}}</ref>
| | The diagnosis of adiposis dolorosa is primarily clinical, based on the presence of painful lipomas and associated symptoms. [[Imaging studies]] such as [[ultrasound]] or [[MRI]] may be used to assess the lipomas and rule out other conditions. A [[biopsy]] of the lipomas can confirm the diagnosis by showing mature adipose tissue without atypical features. |
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| ==Treatment ==
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| 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. <ref>{{Cite journal|title = Liposuction may reduce pain in Dercum's disease (adiposis dolorosa)|journal = Pain Medicine|date = 2011-06-01|issn = 1526-4637|pmid = 21481169|pages = 942–952|volume = 12|issue = 6|doi = 10.1111/j.1526-4637.2011.01101.x|first = Emma|last = Hansson|first2 = Henry|last2 = Svensson|first3 = Håkan|last3 = Brorson}}</ref>
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| 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.<ref name="ojrd.com" /> Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of Dercum's disease.<ref name="Natural Standard Research Collaboration">{{cite web|url = http://www.naturalretail.com/ns/DisplayMonograph.asp?storeID=DCBDDB383C644F7E9F4D586A359ED7E9&Print=1&DocID=dercumsdisease|title = Dercum's disease|website = Natural Retail Group|archiveurl = https://web.archive.org/web/20120330182549/http://www.naturalretail.com/ns/DisplayMonograph.asp?storeID=DCBDDB383C644F7E9F4D586A359ED7E9&Print=1&DocID=dercumsdisease|archivedate = 2012-03-30}}</ref><ref>{{cite web|url = http://naturalstandard.com/index-abstract.asp?create-abstract=condition-dercumsdisease.asp&title=Dercum's%20disease|title = Dercum's disease|accessdate = 2013-12-22|website = Natural Standard Professional Database}}{{Registration required}}</ref> Not enough studies have been done to substantiate that diet and supplements could help with the disease.
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| Treatment methods include the following modalities:
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| ===Surgery===
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| Surgical excision of fatty tissue deposits around joints (liposuction) has been used in some cases.<ref>{{cite journal|pmc=1004110|year=1990|last1=De Silva|first1=M|last2=Earley|first2=MJ|title=Liposuction in the treatment of juxta-articular adiposis dolorosa|volume=49|issue=6|pages=403–404|journal=Annals of the Rheumatic Diseases|doi=10.1136/ard.49.6.403|pmid=2383065}}</ref> Liposuction may temporarily relieve symptoms although recurrences often develop. <ref>{{Cite journal|title = Liposuction may reduce pain in Dercum's disease (adiposis dolorosa)|journal = Pain Medicine|date = 2011-06-01|issn = 1526-4637|pmid = 21481169|pages = 942–952|volume = 12|issue = 6|doi = 10.1111/j.1526-4637.2011.01101.x|first = Emma|last = Hansson|first2 = Henry|last2 = Svensson|first3 = Håkan|last3 = Brorson}}</ref>
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| ===Medication===
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| '''Traditional analgesics'''
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| The pain in Dercum's disease is often reported to be refractory to analgesics and to [[non-steroidal anti-inflammatory drug]]s (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.<ref name="ojrd.com"/><ref name="painful fat">{{cite journal|last1=Herbst|first1=Karen L.|last2=Asare-Bediako|first2=Sheila|title=Adiposis Dolorosa Is More Than Painful Fat|journal=The Endocrinologist|date=November 2007|volume=17|issue=6|pages=326–334|doi=10.1097/TEN.0b013e31815942294}}</ref>
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| '''Lidocaine'''
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| 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.<ref name="ojrd.com"/>
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| 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.
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| 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.<ref name="ojrd.com"/>
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| 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.<ref name="ojrd.com"/>
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| '''Methotrexate and infliximab'''
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| 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.<ref name="ojrd.com"/>
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| '''Interferon α-2b'''
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| 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.<ref name="ojrd.com"/>
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| '''Corticosteroids'''
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| 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.
| | ==Treatment== |
| 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.<ref name="ojrd.com"/>
| | There is no cure for adiposis dolorosa, and treatment is primarily symptomatic. [[Pain management]] is a key component and may include [[analgesics]], [[nonsteroidal anti-inflammatory drugs]] (NSAIDs), and in some cases, [[opioids]]. [[Surgical removal]] of the lipomas may be considered for those causing significant pain or discomfort. Other treatments that have been explored include [[liposuction]], [[corticosteroid injections]], and [[physical therapy]]. |
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| ===Alternative treatment=== | | ==Prognosis== |
| '''CVAC sessions'''
| | The prognosis for individuals with adiposis dolorosa varies. While the condition is chronic and can significantly impact quality of life, it is not life-threatening. The severity of symptoms can fluctuate, and some patients may experience periods of remission. |
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| 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.<ref>{{Cite journal|pmc=3004643|last1=Herbst|first1=KL|last2=Rutledge|first2=T|title=Pilot study: Rapidly cycling hypobaric pressure improves pain after 5 days in adiposis dolorosa|volume=3|pages=147–153|doi=10.2147/JPR.S12351|journal=Journal of Pain Research|year=2010|pmid=21197318}}</ref><ref>{{Cite web | url=http://www.cvacsystems.com/index.php/terms | title=Terms of Use}}</ref>
| | ==Related pages== |
| | * [[Lipoma]] |
| | * [[Adipose tissue]] |
| | * [[Chronic pain]] |
| | * [[Rare diseases]] |
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| ==Epidemiology==
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| Dercum's disease most commonly appears between the ages of 35 and 50 years of age.<ref name="ojrd.com"/> It is five to thirty times more common in women than in men.<ref name="ojrd.com"/> 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.<ref name="ojrd.com"/> The prevalence of Dercum's disease has not yet been exactly established.<ref name="ojrd.com"/>
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| {{Medical resources
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| | DiseasesDB = 29660
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| | ICD10 = {{ICD10|E|88|2|e|70}}
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| | ICD9 = {{ICD9|272.8}}
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| | ICDO =
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| | OMIM = 103200
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| | MedlinePlus =
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| | eMedicineSubj = derm
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| | eMedicineTopic = 839
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| | MeshID = D000274
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| | Orphanet=36397
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| }}
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| {{Soft tissue tumors and sarcomas}}
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| [[Category:Rare diseases]] | | [[Category:Rare diseases]] |
| <gallery>
| | [[Category:Adipose tissue disorders]] |
| File:Nervous and mental diseases (1919) (14781727145).jpg|Adiposis dolorosa
| | [[Category:Chronic pain syndromes]] |
| </gallery>
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A rare condition characterized by painful lipomas
Adiposis dolorosa, also known as Dercum's disease, is a rare condition characterized by multiple painful lipomas, which are benign tumors composed of adipose tissue. This condition predominantly affects adults and is more common in women than in men.
Signs and symptoms
Individuals with adiposis dolorosa typically present with multiple, painful lipomas located primarily on the trunk, upper arms, and upper legs. The pain associated with these lipomas can be severe and is often described as burning or aching. In addition to the lipomas, patients may experience fatigue, weakness, and emotional disturbances such as depression and anxiety.
Pathophysiology
The exact cause of adiposis dolorosa is not well understood. It is believed to involve abnormalities in the nervous system and adipose tissue metabolism. Some researchers suggest that the pain may be due to nerve compression by the lipomas or an inflammatory process within the adipose tissue. There is also evidence to suggest a possible genetic component, as the condition can run in families.
Diagnosis
The diagnosis of adiposis dolorosa is primarily clinical, based on the presence of painful lipomas and associated symptoms. Imaging studies such as ultrasound or MRI may be used to assess the lipomas and rule out other conditions. A biopsy of the lipomas can confirm the diagnosis by showing mature adipose tissue without atypical features.
Treatment
There is no cure for adiposis dolorosa, and treatment is primarily symptomatic. Pain management is a key component and may include analgesics, nonsteroidal anti-inflammatory drugs (NSAIDs), and in some cases, opioids. Surgical removal of the lipomas may be considered for those causing significant pain or discomfort. Other treatments that have been explored include liposuction, corticosteroid injections, and physical therapy.
Prognosis
The prognosis for individuals with adiposis dolorosa varies. While the condition is chronic and can significantly impact quality of life, it is not life-threatening. The severity of symptoms can fluctuate, and some patients may experience periods of remission.
Related pages
