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Chapter 74: Lipodystrophy

Abhimanyu Garg

AT-A-GLANCE

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, AGPAT2, BSCL2, CAV1, and CAVIN1.

  • Five loci have been identified for autosomal dominant familial partial lipodystrophy (FPL), namely, LMNA, PPARG, AKT2, PLIN1, and ADRA2A.

  • LIPE, CIDEC, PCYT1A, and RECQL2 are loci for autosomal recessive FPL, and LMNA and ZMPSTE24 are loci for mandibuloacral dysplasia-associated lipodystrophy.

  • Molecular basis of many extremely 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 as a result of drug or vaccine injections, pressure, and panniculitis, as well as other unknown reasons.

  • Current management includes cosmetic surgery and early identification and treatment of metabolic and other complications.

  • Metreleptin replacement therapy is beneficial for treating metabolic complications in hypoleptinemic patients with generalized lipodystrophies.

Lipodystrophies are a heterogeneous group of disorders characterized by selective loss of adipose tissue.1,2 The extent of fat loss varies, with some patients losing fat from small areas (localized lipodystrophy), and others having 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.3-5 There are 2 main types of lipodystrophies: genetic and acquired. Table 74-1 provides a detailed classification of various types of lipodystrophies.

TABLE 74-1Classification of Lipodystrophies
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TABLE 74-1 Classification of Lipodystrophies

Genetic Lipodystrophies

  1. Autosomal recessive, congenital generalized lipodystrophy (CGL)

    1. Type 1: AGPAT2 mutations

    2. Type 2: BSCL2 mutations

    3. Type 3: CAV1 mutation

    4. Type 4: CAVIN1 mutations

    5. Others

  2. Autosomal dominant, familial partial lipodystrophy (FPL)

    1. Dunnigan variety: LMNA mutations

    2. PPARG mutations

    3. AKT2 mutation

    4. PLIN1 mutations

    5. ADRA2A (adrenoceptor α2A) mutation

    6. Others

  3. Autosomal recessive, familial partial lipodystrophy (FPL)

    1. CIDEC mutation

    2. LIPE mutations

    3. PCYT1A mutations

    4. RECQL2 mutations

  4. Autosomal recessive, mandibuloacral dysplasia (MAD)–associated lipodystrophy

    1. LMNA mutations

    2. ZMPSTE24 mutations

    3. Others

  5. Other lipodystrophies associated with LMNA mutations

    1. Atypical progeroid syndrome

    2. Hutchinson-Gilford progeria syndrome

  6. SHORT (short stature, hyperextensibility of joints or hernia, ocular depression, Rieger anomaly, teething) syndrome

    1. PIK3R1 mutations

  7. Neonatal progeroid (Weidemann-Rautenstrauch) syndrome

    1. FBN1 mutations

    2. CAV1 mutations

    3. POLR3A mutation

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

    1. POLD1 mutations

  9. Autoinflammatory lipodystrophy (joint contractures, microcytic anemia, panniculitis-associated [JMP] lipodystrophy syndrome spectrum including chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature [CANDLE] syndrome)

    1. PSMB8 mutations

Acquired Lipodystrophies

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

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