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Adiposis dolorosa

Orpha number ORPHA36397
Synonym(s) Adiposalgia
Adipose tissue rheumatism
Dercum's disease
Lipomatosis dolorosa
Neurolipomatosis
Prevalence Unknown
Inheritance
  • Sporadic
Age of onset Adulthood
ICD-10
  • E88.2
OMIM
UMLS
  • C0001529
MeSH
  • D000274
MedDRA
  • 10001294
SNOMED CT
  • 71404003

Summary

Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy. 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. The lipomas may be localised or diffuse and can occur at any location except the face and neck. The most common sites are the knees (referred to as juxta-articular adiposis dolorosa), upper thighs, back and upper arms. Lipomas near the joints cause arthralgia. The pain increases with BMI. Paresthesia and ecchymosis have been noted in the skin overlying the fatty deposits. Sparse pubic and axillary hair have also been reported. The majority of reported cases are sporadic but a few familial cases with autosomal dominant transmission have been described. The aetiology remains unknown but several hypotheses have been proposed including an autoimmune mechanism, alterations in fatty acid or carbohydrate metabolism and endocrine anomalies. In one case, onset of adiposis dolorosa was found to be triggered by long-term treatment with high-dose corticosteroids. Diagnosis is mainly clinical (the association of pain and the fatty acid deposits with obesity is a key factor for diagnosis) and is often delayed due to the diverse spectrum of manifestations. Ultrasound and MRI are useful diagnostic tools for identifying the masses as lipomas. The differential diagnosis should include fibromyalgia, other multiple lipoma syndromes such as familial symmetric lipomatosis, Proteus syndrome, MERRF syndrome with lipomatous lesions, neurofibromatosis type 1 (NF1) and multiple endocrine neoplasia type 1 (see these terms). 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. Traditional analgesics are generally ineffective. 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. The disease course is chronic and progressive.

Expert reviewer(s)

  • Pr Louis DUBERTRET

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Detailed information

Review article
  • EN (2012)
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