How to Diagnose a Lipodystrophy Syndrome

    June 2012 in “ Annales d'Endocrinologie ”
    Marie-Christine Vantyghem, Anne-Sophie Balavoine, Claire Douillard, F. Defrance, Lucile Dieudonne, F. Mouton, C. Lemaire, Nicole Bertrand-Escouflaire, Marie-Françoise Bourdelle-Hego, F. Devemy, Anne Evrard, Dominique Gheerbrand, Caroline Girardot, Sophie Gumuche, C Hober, H. Topolinski, Blandine Lamblin, Bénédicte Mycinski, Amélie Ryndak, Wassila Karrouz, Etienne Duvivier, E. Merlen, Christine Cortet, J Weill, Dominique Lacroix, Jean-Louis Wémeau
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    Studysummary This review discusses the range and causes of adipose tissue diseases, emphasizing genetic and acquired forms of lipodystrophy, but it reports no new clinical results. Our plain-language summary of this paper — not a Tressless recommendation.
    The document from 2012 reviews lipodystrophy syndromes, which are characterized by abnormal fat distribution and are associated with insulin resistance, potentially leading to type 2 diabetes, dyslipidemia, and cardiovascular complications. These syndromes can be either genetic or acquired, with various forms such as Dunnigan syndrome and mutations in specific genes like PPAR-gamma, Akt2, and AGPAT2. The document details the diagnostic approach, including patient history, physical examination, laboratory and paraclinical testing, and genetic analysis. It also discusses the clinical presentations of different genetic mutations and acquired forms of lipodystrophy, as well as therapeutic options like medical management, surgical treatment, recombinant leptin, and modifications in antiretroviral treatment. Additionally, it covers benign multiple symmetric lipomatosis and Dercum disease, along with their treatments. The document emphasizes the importance of recognizing these syndromes for proper diagnosis and management, noting that they are under-recognized and provide insights into metabolic syndrome.
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