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Chapter 71. Lipodystrophy

Abhimanyu Garg

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    AMA Citation
    Garg A. Garg A Garg, Abhimanyu.Chapter 71. Lipodystrophy. In: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. Goldsmith L.A., & Katz S.I., & Gilchrest B.A., & Paller A.S., & Leffell D.J., & Wolff K(Eds.),Eds. Lowell A. Goldsmith, et al.eds. Fitzpatrick's Dermatology in General Medicine, 8e. McGraw-Hill; Accessed July 15, 2020. https://accessmedicine.mhmedical.com/content.aspx?bookid=392&sectionid=41138772
    APA Citation
    Garg A. Garg A Garg, Abhimanyu. (2012). Chapter 71. lipodystrophy. Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. Goldsmith L.A., & Katz S.I., & Gilchrest B.A., & Paller A.S., & Leffell D.J., & Wolff K(Eds.),Eds. Lowell A. Goldsmith, et al. Fitzpatrick's Dermatology in General Medicine, 8e. McGraw-Hill. https://accessmedicine.mhmedical.com/content.aspx?bookid=392&sectionid=41138772
    MLA Citation
    Garg A. Garg A Garg, Abhimanyu. "Chapter 71. Lipodystrophy." Fitzpatrick's Dermatology in General Medicine, 8e Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. Goldsmith L.A., & Katz S.I., & Gilchrest B.A., & Paller A.S., & Leffell D.J., & Wolff K(Eds.),Eds. Lowell A. Goldsmith, et al. McGraw-Hill, 2012, https://accessmedicine.mhmedical.com/content.aspx?bookid=392&sectionid=41138772.

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Lipodystrophy at a Glance
  • Lipodystrophies are genetic or acquired disorders characterized by selective loss of body fat. The extent of fat loss determines the severity of associated metabolic complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, and acanthosis nigricans.
  • Four loci have been identified for the autosomal recessive congenital generalized lipodystrophy (CGL), namely, (1) AGPAT2, (2) BSCL2, (3) CAV1, and (4) PTRF.
  • Four loci have been identified for autosomal dominant familial partial lipodystrophy (FPL), namely, (1) LMNA, (2) PPARG, (3) AKT2, and (4) PLIN1.
  • CIDEC is the locus for autosomal recessive FPL, and LMNA and ZMPSTE24 are loci for autosomal recessive mandibuloacral dysplasia-associated lipodystrophy.
  • Molecular basis of many rare forms of genetic lipodystrophies remains to be elucidated.
  • The most prevalent variety of lipodystrophy develops after prolonged duration of protease inhibitor containing highly active antiretroviral therapy in HIV-infected patients.
  • The acquired generalized lipodystrophy and acquired partial lipodystrophy are mainly autoimmune in origin.
  • Localized lipodystrophies occur due to drug or vaccine injections, pressure, panniculitis, and other unknown reasons.
  • The current management includes cosmetic surgery and early identification and treatment of metabolic and other complications.

Lipodystrophies are a heterogeneous group of disorders characterized by selective loss of adipose tissue.1 The extent of fat loss varies, with some patients losing fat from small areas (localized lipodystrophy), whereas others may have more extensive fat loss, for example, involving the extremities (partial lipodystrophy) or the entire body (generalized lipodystrophy). Depending upon the extent of fat loss, patients may be predisposed to develop complications associated with insulin resistance such as, diabetes mellitus, dyslipidemia, hepatic steatosis, acanthosis nigricans, polycystic ovarian disease, and coronary heart disease.2,3 There are two main types of lipodystrophies: (1) genetic and (2) acquired. A detailed classification of various types of lipodystrophies is given in Table 71-1.

Table 71-1 Classification of Lipodystrophies
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Table 71-1 Classification of Lipodystrophies

  1. Genetic Lipodystrophies

    1. Autosomal recessive, congenital generalized lipodystrophy (CGL)

      1. Type 1: AGPAT2 mutations

      1. Type 2: BSCL2 mutations

      1. Type 3: CAV1 mutation

      1. Type 4: PTRF mutations

      1. Others

    1. Autosomal dominant, familial partial lipodystrophy (FPL)

      1. Dunnigan variety: LMNA mutations

      1. PPARG mutations

      1. AKT2 mutation

      1. d. PLIN1 mutations

      1. Others

    1. Autosomal recessive, familial partial lipodystrophy

      1. CIDEC mutation

    1. Autosomal recessive, mandibuloacral dysplasia (MAD)-associated lipodystrophy

      1. LMNA mutations

      1. ZMPSTE24 mutations

      1. Others

    1. Other lipodystrophies associated with LMNA mutations

      1. Atypical progeroid syndrome

      1. Hutchinson–Gilford progeria syndrome

    1. SHORT syndrome

      1. Autosomal recessive

      1. Autosomal dominant

    1. Neonatal progeroid (Weidemann–Rautenstrauch) syndrome

    1. Mandibular hypoplasia, deafness, progeroid (MDP) syndrome

    1. Joint contractures, microcytic anemia, panniculitis-associated (JMP) lipodystrophy syndrome spectrum

      1. PSMB8 mutations

        • 9a. Chronic atypical neutrophilic dermatosis with ipodystrophy and elevated temperature (CANDLE) syndrome

  1. Acquired Lipodystrophies

    1. Highly active antiretroviral therapy-induced lipodystrophy in HIV-infected patients

    1. Acquired generalized lipodystrophy

      1. Panniculitis-induced

      1. Autoimmune diseases-associated

      1. Idiopathic

    1. Acquired partial (Barraquer–Simons) lipodystrophy

      1. Autoimmune diseases-associated

      1. Membranoproliferative glomerulonephritis-associated

      1. Idiopathic

    1. Localized lipodystrophies

      1. Panniculitis-induced

      1. Pressure-induced

      1. Drug-induced

      1. Centrifugal

      1. Idiopathic

In the last decade or so, considerable progress has been made in elucidation ...

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