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Partial acquired lipodystrophy

Orpha number ORPHA79087
Synonym(s) Barraquer-Simons syndrome
Progressive cephalothoracic lipodystrophy
Prevalence Unknown
Inheritance
  • Sporadic
Age of onset Childhood
ICD-10
  • E88.1
OMIM
UMLS
  • C0220989
MeSH -
MedDRA -
SNOMED CT
  • 75659004

Summary

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs. More than 250 cases have been described in the literature, with a female-to-male ratio of 3:1. There is usually no family history of lipodystrophy. Onset occurs during childhood or adolescence. The lipoatrophy starts on the face and then extends to the neck, shoulders, upper members and then to the thorax. It is sometimes associated with perception deafness, epilepsy, intellectual deficit or even myopathy. Metabolic anomalies are sometimes present. Mesangiocapillary glomerulonephritis is reported in one third of patients and is associated with the presence of the C3NeF IgG and low complement levels in 90% of cases. An association with other autoimmune diseases has sometimes been reported. Recently, mutations in the nuclear envelope protein, lamin B2, have been identified in patients with this syndrome. Surgical management of the lipodystrophy is feasible, and is mainly aimed at aesthetic improvement. Treatment of the metabolic manifestations, if present, should follow the same guidelines as those used for other forms of insulin resistance: physical exercise, insulin-sensitising medication (metformin or glitazones), insulin (or preferably insulin analogues) and management of the hypertension and hypertriglyceridaemia. Nephrological follow-up should also be recommended. The prognostic is largely unknown but depends on the extent of the nephropathy, which may progress to renal insufficiency.

Expert reviewer(s)

  • Dr Marie-Christine VANTYGHEM

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