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Adiposis Dolorosa

Dercum's Disease

Adiposis dolorosa is a disorder of unknown etiology found in obese individuals. The condition is defined by the presence of numerous painful lipomas, along with a range of other symptoms. There is usually no familial pattern of inheritance.


Presentation

Adiposis dolorosa (AD) is a disease that usually affects women, but has also been observed in men [1] [2]. It rarely occurs in children. It is frequently reported in peri-menopausal women, although 35-50 years is the age range often stated in literature [3]. AD presents with generalized obesity, as well as numerous, painful lipomas which vary in size, primarily affecting the torso and extremities, although there is no involvement of the hands. AD does not affect the face.

Other commonly associated symptoms are fatigue, weakness, chronic pain, thinning pubic hair, and various gastrointestinal problems. Pain is progressive, increases with body mass index (BMI), and may be severe enough to limit mobility and disrupt daily activity [1] [2]. It may also be experienced as tenderness on palpation or as transient episodes, and is affected by changes in weather and temperature [4].

Patients may present with easy bruising, angiolipomas, menstrual changes, bleeding diatheses, migraines, joint pain or stiffness, and myalgias. More general symptoms such as non-pitting edema, dyspnea, tachycardia and fatigue have been reported [2]. Memory impairment, difficulties in thought processes, sleep derangements, depression, anxiety, and other psychiatric disorders can occur.

AD may be classified into Type I, with widespread distribution of painful fat tissue without recognizable lipomas (generalized diffuse form); Type II, with pain in both diffuse adipose tissue and in localized lipomas (generalized nodular form); Type III, with pain in numerous lipomas (localized nodular form); and type IV, with singular fat accumulations near the joints (juxta-articular form) [5]. There are cases of a familial form of AD, with an autosomal dominant pattern of inheritance [5]. The particular gene mutation has not yet been discovered.

Proposed precipitating factors are prolonged high dose steroid use, trauma, endocrine or adipose tissue abnormalities, as well as autoimmune conditions [5] [6].

Pain
  • The subjective pain sensation was evaluated with a visual analog scale and number of words chosen, and the objective pain sensation with the mechanical pressure pain threshold.[ncbi.nlm.nih.gov]
  • […] by the McGill Pain Questionnaire.[ncbi.nlm.nih.gov]
  • Pain. 1987 Jan;28(1):77-80. Abstract Dercum's disease (adiposis dolorosa) is associated with very painful subcutaneous fatty deposits normally localized to the lower extremities in which pain treatment is usually unsuccessful.[ncbi.nlm.nih.gov]
Fatigue
  • The majority reported pain, fatigue, weight gain (25.7 15 kg), multiple growths, and weakness at onset. The median number of palpable growths was 77.3 84.5 in subcutaneous fat from scalp to dorsal foot.[doi.org]
  • Other commonly associated symptoms are fatigue, weakness, chronic pain, thinning pubic hair, and various gastrointestinal problems.[symptoma.com]
  • Her systemic symptoms included generalized weakness, fatigue, memory impairment, and arthralgias. Although some of the lesions were tender, most were only appreciated with palpation.[ncbi.nlm.nih.gov]
  • Fibromyalgia syndrome is a common and chronic disorder characterised by widespread muscle pain, fatigue, and multiple tender points.[books.google.de]
Weight Loss
  • Adiposis dolorosa (AD) is a rare disorder of painful nodular subcutaneous fat accompanied by fatigue, difficulty with weight loss, inflammation, increased fluid in adipose tissue (lipedema and lymphedema), and hyperalgesia.[ncbi.nlm.nih.gov]
  • Almost all respondents reported exercise-associated pain in growths, and 100% saw no decrease in growths with weight loss. Over 75% had liposuction and over half reported regrowth. Almost half reported family members with growths.[doi.org]
  • Weight loss does not result in pain relief or resolution of the lipomas. Surgical options include liposuction or excision. Recurrence of the lipomas after surgical removal, either at the same site or at other locations, is common.[orpha.net]
  • loss, inflammation, increased fluid in adipose tissue (lipedema and lymphedema), and hyperalgesia.[doi.org]
Fever
  • Some patients report feeling hot; in rare cases adiposis dolorosa is associated with low-grade fever. Morning stiffness may occur.[dermatologyadvisor.com]
  • Still, other symptoms may present themselves, such as a long-term, low-grade fever, minor headaches, and random, otherwise unexplained swelling or bruising of body parts. Adiposis dolorosa is a rare disease, therefore detailed research is lacking.[wisegeek.com]
  • No satisfactory treatment is available for the prevention or management of the chronic syndrome, but the use of corticosteroids in the early stages of EMS frequently results in improvement of myalgias, tissue swelling, fever, and respiratory symptoms[dercum.tripod.com]
  • It predominantly affects middle age men of mediterranean origin A systemic disease, often associated with arthritis, fever, and weight loss. The cutaneous lesions consist of histiocytes, which are usually confined to the dermis.[icd9data.com]
Pathologist
  • Nada Macaron, MD Consultant Pathologist, Institute of Pathology and Laboratory Medicine, Sheikh Khalifa Medical city, UAE Nada Macaron, MD is a member of the following medical societies: College of American Pathologists and United States and Canadian[emedicine.com]
Early Satiety
  • […] angiomas and petechiae Easy bruising Flushing Heavy or prolonged menstrual bleeding Hematuria of unknown cause Non-pitting edema in subcutaneous fat GERD; gastro-esophageal reflux disease Irritable bowel syndrome, bloating, and abdominal pain Migranes Early[web.archive.org]
Subcutaneous Nodule
  • A 41-year-old woman with painful subcutaneous nodules. N Engl J Med. 2006;355:714-722. Wortham NC, Tomlinson IP. Dercum’s disease. Skinmed. 2005;4:157-62. Steiner J, Schiltz K, Heidenreich F, Weissborn K.[rarediseases.org]
  • A 41-year-old woman with painful subcutaneous nodules”. N Engl J Med. vol. 17;355. 2006. pp. 714-22. (A well-written differential diagnosis of adiposis dolorosa and its management.) Copyright 2017, 2013 Decision Support in Medicine, LLC.[dermatologyadvisor.com]
  • A 41-year-old woman with painful subcutaneous nodules". N Engl J Med. vol. 17;355. 2006. pp. 714-22. Copyright 2017, 2012 Decision Support in Medicine, LLC. All rights reserved.[clinicaladvisor.com]
  • Surgical removal or liposuction may help, but lipomas may recur. 0012378 Obesity Having too much body fat 0001513 Psychosis 0000709 Subcutaneous nodule Firm lump under the skin Growth of abnormal tissue under the skin [5] [6] [4] Because the condition[rarediseases.info.nih.gov]
Petechiae
  • […] activities of daily living and exercise Memory difficulties/impairment Difficulty forming thoughts; “brain fog” Difficulty expressing thoughts; word finding problems Weight gain in most Vascular involvement; angiolipomas Multiple cherry angiomas and petechiae[web.archive.org]
Psychiatric Symptoms
  • The disease is associated with weakness and psychiatric symptoms such as depression.[dercumsdiseaseresearch.wordpress.com]
  • A number of endocrine disorders can cause generalised pain in combination with obesity and psychiatric symptoms.[doi.org]
Dysarthria
  • The disorder was associated with dysarthria, visual pursuit defect and progressive dystonia. MRI showed bilateral increasing cystic lesions in the basal parts of the putamen. No other abnormalities were detected.[lookfordiagnosis.com]
  • The affected subjects developed associated dysarthria, visual pursuit defects and progressive dystonia. Magnetic resonance imaging revealed bilateral increasing cystic lesions in the basal parts of the putamen.[doi.org]

Workup

The confirmation of adiposis dolorosa is based on certain diagnostic criteria, with minimum requirements of being obese or overweight, and experiencing chronic pain in fat tissue for 3 or more months [5]. Physical exam is adequate for making a diagnosis. Dissection of resected masses can further solidify the diagnosis [7]. Reaching the correct diagnosis may be challenging due to varying presentations.

Imaging techniques, including ultrasound and magnetic resonance imaging (MRI), can be used non-invasively to ensure that the masses are lipomas [8] [9] [10]. Laboratory tests may be carried out to exclude any suspected endocrine disorders such as thyroid or adrenal disease. High erythrocyte sedimentation rate (ESR), alpha-1 antitrypsin, haptoglobin, and complement levels may be noted [11].

Treatment

  • Treatment consisted in 4 cycles of 30 minutes FREMS sessions over a 6-month period.[ncbi.nlm.nih.gov]
  • Management and treatment Treatment is symptomatic. Pain may be relieved by intravenous administration of lidocaine, local corticosteroid (prednisone) injections and combinations of mexiletine and amitriptyline, or infliximab and methotrexate.[orpha.net]
  • The cause is unknown, and there is no specific treatment. Pain may be relieved by steroids, intravenous lidocaine, or analgesics. Surgical treatment consists of excision or liposuction of the painful masses.[ncbi.nlm.nih.gov]
  • Abstract Long-term treatment with high doses of corticosteroids leads to the development of truncal obesity and focal fatty deposition.[ncbi.nlm.nih.gov]
  • We conclude that intravenous lidocaine or peroral mexiletine may be an effective analgesic treatment in patients with Dercum's disease.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis The disease course is chronic and progressive. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis - Adiposis dolorosa Not supplied. Treatment - Adiposis dolorosa Resources - Adiposis dolorosa[checkorphan.org]
  • Adiposis Dolorosa Prognosis and Diagnosis The prognosis of Dercum’s disease is that it’s a chronic condition that develops gradually.[myphiladelphiadisabilitylawyer.com]

Etiology

  • The etiology is uncertain, but is probably multifactorial. Numerous treatments to relieve the pain have generally been unsuccessful. A patient with adiposis dolorosa was treated with intravenous infusions of lidocaine over a two-year period.[ncbi.nlm.nih.gov]
  • Dercum's disease mainly occurs in adults and more women are affected than men. (1) Etiology T he specific etiology of Dercum's Disease is unknown.[web.archive.org]
  • Etiology is unknown and pain is difficult to control. We report the case of a 57-year-old man with generalized diffuse Dercum's disease, who improved after the treatment with transcutaneous frequency rhythmic electrical modulation system (FREMS).[ncbi.nlm.nih.gov]
  • DISCUSSION: Dercum's disease is a rare condition of unknown etiology characterized by multiple, often painful lipomas. Paresthesia in the overlying skin is common. Lipomas about the joints cause mechanical arthralgia.[ncbi.nlm.nih.gov]
  • The etiology of this syndrome remains unknown.[doi.org]

Epidemiology

  • Summary Epidemiology Prevalence is unknown. The disease usually occurs in postmenopausal women between 45 and 60 years of age but a few cases have been reported in males.[orpha.net]
  • Definition / general Tender accumulations of subcutaneous fat / lipomas, often in pelvis and lower extremities of postmenopausal women Terminology Also called Dercum disease Epidemiology Associated with women, obesity, hypercholesterolemia Clinical features[pathologyoutlines.com]
  • Most cases of the disease are found to be sporadic with no specific genetic mutations. [3] [4] [5] Epidemiology No significant epidemiologic data is available but based on case reports adiposis dolorosa is found more frequently in obese females ages 35[statpearls.com]
Sex distribution
Age distribution

Pathophysiology

  • Understanding the pathophysiology and metabolism of lipomatosis in AD may contribute to a better understanding of metabolism in non-lipomatosis obesity.[ncbi.nlm.nih.gov]
  • Although many cases of adiposis dolorosa have been described in the literature, 2 , 3 4 5 little has been added in clinical description, pathophysiologic interpretation or etiologic definition since Dercum's original publication.[nejm.org]
  • In order to improve recognition of RADs apart from obesity, the diagnostic criteria, histology and pathophysiology of RADs are presented and contrasted to familial partial lipodystrophies, acquired partial lipodystrophies and obesity with which they may[skincareguide.ca]
  • Pathophysiology The pathophysiology of this rare disease is unknown. Recent studies suggest that the lipomatosis in this disease is inflammatory and involves elevated interleukin (IL)-6 and connective tissue was increased fourfold.[dermatologyadvisor.com]

Prevention

  • Prevention High quality scientific evidence regarding prevention of Dercum's disease is currently lacking.[web.archive.org]
  • Knowledge of these conditions and the characteristic imaging findings is important to prevent unnecessary biopsy and misdiagnosis.[ncbi.nlm.nih.gov]
  • Prevention - Adiposis dolorosa Not supplied. Diagnosis - Adiposis dolorosa A diagnosis of Dercum's disease is based on what the patient tells and what the doctor finds at his examination.[checkorphan.org]
  • 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.[en.wikipedia.org]

References

Article

  1. Learning About Dercum Disease. National Human Genome Research Institute. http://www.genome.gov/17516629. Updated June 27, 2012. Accessed March 6, 2018.
  2. Dercum's Disease. Fat Disorders Research Society. http://www.fatdisorders.org/fat-disorders/dercums-description. Accessed March 6, 2018.
  3. Campen R, Mankin H, Louis DN, Hirano M, Maccollin M. Familial occurrence of adiposis dolorosa. J Am Acad Dermatol. 2001;44(1):132-136.
  4. Brodovsky S, Westreich M, Leibowitz A, Schwartz Y. Adiposis dolorosa (Dercum's disease): 10-year follow-up. Ann Plast Surg. 1994;33(6):664-668.
  5. 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;7:23.
  6. Adiposis dolorosa. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/adiposis-dolorosa. Reviewed July, 2012. Accessed March 6, 2018.
  7. Dercum's disease. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/dercums-disease/. Accessed March 6, 2018.
  8. Amine B, Leguilchard F, Benhamou CL. Dercum's disease (adiposis dolorosa): a new case-report. Joint Bone Spine. 2004;71(2):147-149.
  9. Tins BJ, Matthews C, Haddaway M, et al. Adiposis dolorosa (Dercum's disease): MRI and ultrasound appearances. Clin Radiol. 2013;68(10):1047-1053.
  10. Petscavage-Thomas JM, Walker EA, Bernard SA, Bennett J. Imaging findings of adiposis dolorosa vs. massive localized lymphedema. Skeletal Radiol. 2015;44(6):839-847.
  11. Greenbaum SS, Varga J. Corticosteroid-induced juxta-articular adiposis dolorosa. Arch Dermatol. 1991;127(2):231-233.

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Last updated: 2018-06-22 07:07