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Familial symmetric lipomatosis

Orpha number ORPHA2398
Synonym(s) Central non-encapsulated lipomatosis
Familial benign cervical lipomatosis
Launois-Bensaude adenolipomatosis
Madelung disease
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Adulthood
ICD-10
  • E88.8
OMIM
UMLS
  • C2931642
MeSH -
MedDRA -
SNOMED CT
  • 254832003
  • 63365006

Summary

Familial symmetric lipomatosis is characterised by a large and symmetrical accumulation of adipose mass at the level of the head, neck and upper trunk. The prevalence is unknown but the incidence is 1 in 25 000. The condition occurs principally in males between 30 and 60 years of age. The accumulation of adipose tissue increases progressively, often leading to a loss of neck mobility and pain. It is often associated with alcohol intoxication and neuropathy is frequent. Insulin resistance has also been described. Mitochondrial DNA mutations have been identified in some cases, mainly when familial symmetric lipomatosis occurs in the context of familial multisystemic disease. Treatment revolves around preventing alcoholic intoxication, if present. To date, there is no pharmacological treatment, other than that used to manage the possible associated metabolic disorder. In the absence of treatment, this syndrome does not usually resolve. It is often associated with an increased risk of cardiovascular disease resulting from insulin resistance. Surgical management (liposuction, lipectomy, etc.) may be proposed if the adipose masses become troublesome due to their large volume but the prognosis for reoccurrence has not been clearly established.

Expert reviewer(s)

  • Dr Marie-Christine VANTYGHEM

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