title: How to diagnose a lipodystrophy syndrome.
abstract: The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement. Gene mutations encoding for PPAR-gamma, Akt2, CIDEC, perilipin and the ZMPSTE 24 enzyme are much more rare. The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications. Glycosylation disorders are sometimes involved. Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. Then there are forms that are considered to be acquired. They may be iatrogenic (protease inhibitors in HIV patients, glucocorticosteroids, insulin, graft-versus-host disease, etc.), related to an immune system disease (sequelae of dermatopolymyositis, autoimmune polyendocrine syndromes, particularly associated with type 1 diabetes, Barraquer-Simons and Lawrence syndromes), which are promoted by anomalies of the complement system. Finally, lipomatosis is currently classified as a painful form (adiposis dolorosa or Dercum's disease) or benign symmetric multiple form, also known as Launois-Bensaude syndrome or Madelung's disease, which are sometimes related to mitochondrial DNA mutations, but are usually promoted by alcohol. In addition to the medical management of metabolic syndrome and the sometimes surgical treatment of lipodystrophy, recombinant leptin provides hope for genetically determined lipodystrophy syndromes, whereas modifications in antiretroviral treatment and tesamorelin, a GHRH analog, is effective in the metabolic syndrome of HIV patients. Other therapeutic options will undoubtedly be developed, dependent on pathophysiological advances, which today tend to classify genetically determined lipodystrophy as being related to laminopathy or to lipid droplet disorders.
authors: Inserm U859, service d'endocrinologie et maladies métaboliques, hôpital Huriez, CHRU de Lille, 1, rue Polonovski, 59000 Lille, France. mc-vantyghem@chru-lille.fr
authors: Marie-Christine
authors: MC
authors: Vantyghem
authors: Anne-Sophie
authors: AS
authors: Balavoine
authors: Claire
authors: C
authors: Douillard
authors: Frédérique
authors: F
authors: Defrance
authors: Lucile
authors: L
authors: Dieudonne
authors: Fanny
authors: F
authors: Mouton
authors: Christine
authors: C
authors: Lemaire
authors: Nicole
authors: N
authors: Bertrand-Escouflaire
authors: Marie-Françoise
authors: MF
authors: Bourdelle-Hego
authors: Fabrice
authors: F
authors: Devemy
authors: Anne
authors: A
authors: Evrard
authors: Dominique
authors: D
authors: Gheerbrand
authors: Caroline
authors: C
authors: Girardot
authors: Sophie
authors: S
authors: Gumuche
authors: Christine
authors: C
authors: Hober
authors: Hélène
authors: H
authors: Topolinski
authors: Blandine
authors: B
authors: Lamblin
authors: Bénédicte
authors: B
authors: Mycinski
authors: Amélie
authors: A
authors: Ryndak
authors: Wassila
authors: W
authors: Karrouz
authors: Etienne
authors: E
authors: Duvivier
authors: Emilie
authors: E
authors: Merlen
authors: Christine
authors: C
authors: Cortet
authors: Jacques
authors: J
authors: Weill
authors: Dominique
authors: D
authors: Lacroix
authors: Jean-Louis
authors: JL
authors: Wémeau
mesh_terms: D017667:Adipocytes / Q000473:pathology; D050156:Adipogenesis / Q000187:drug effects / Q000235:genetics; D054392:Adipokines / Q000097:blood; D000273:Adipose Tissue / Q000473:pathology / Q000503:physiopathology; D019380:Anti-HIV Agents / Q000009:adverse effects; D009202:Cardiomyopathies / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007333:Insulin Resistance; D020738:Leptin / Q000031:analogs & derivatives / Q000627:therapeutic use; D008060:Lipodystrophy / Q000139:chemically induced / Q000145:classification / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008068:Lipomatosis / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D024821:Metabolic Syndrome / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D010808:Physical Examination / Q000379:methods*; D012867:Skin / Q000473:pathology; D013577:Syndrome
chemical_list: D054392:Adipokines; D019380:Anti-HIV Agents; D020738:Leptin; C415771:metreleptin