Non-AIDS Lipodystrophy Syndrome

  • Giuliano Enzi
  • Luca Busetto
  • Giuseppe Sergi
  • Sabrina Pigozzo


Lipodystrophies (LDs) are clinically heterogeneous acquired or inherited disorders characterised by a generalised or regional loss of adipose tissue. Generalised LDs, both inherited and acquired, are associated with peripheral insulin resistance, glucose intolerance or overt diabetes, acanthosis nigricans, dyslipidaemia. Bone demineralisation and polycystic ovary syndrome are also part of these diseases. LDs can be classified as acquired or congenital, and generalised or partial (Table 1).


Polycystic Ovary Syndrome Liver Steatosis Overt Diabetes Acanthosis Nigricans Partial Lipodystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Lawrence RD (1946) Lipodystrophy and hepatomegaly with diabetes, lipemia and other metabolic disturbances. Lancet 1:724–731CrossRefGoogle Scholar
  2. 2.
    Misra A, Garg A (2003) Clinical features and metabolic derangements in acquired generalized lipodistrophy: case reports and review of the literature. Medicine 82:129–146PubMedCrossRefGoogle Scholar
  3. 3.
    Garg A (2000) Lipodistrophies. Am J Med 108:143–152PubMedCrossRefGoogle Scholar
  4. 4.
    Huemer C, Kitson H, Realleson PN et al (2001) Lipodystrophy in patients with juvenile dermatomyositis. Evaluation of clinical and metabolic abnormalities. J Rheumatol 28:610–615PubMedGoogle Scholar
  5. 5.
    Billings JK, Milgraum SS, Gupta AK et al (1987) Lipoatrophic panniculitis: a possible autoimmune inflammatory disease of fat: report of three cases. Arch Dermatol 123:1662–1666PubMedCrossRefGoogle Scholar
  6. 6.
    Hacque WA, Shimomura I, Matsuzawa Y, Garg A (2002) Serum adiponectin and leptin levels in patients with lipodystrophies. J Clin Endocrinol Metab 87:2395–2398CrossRefGoogle Scholar
  7. 7.
    Mitchell SW(1885) Singular case of absence of adipose matter in the upper half of the body. Am J Med Sci 90:105–106Google Scholar
  8. 8.
    Barraquer L (1907) Histoire clinique d’un cas d’atrophie du tissue celluloadipeux. Neurolog Centralblatt 26:1072Google Scholar
  9. 9.
    Simons A (1911) Eine seltnen throphoneurose (‘Lipodystrophia progressiva’). Z Gesamte Neurol Psychiatr 5:29–38Google Scholar
  10. 10.
    Eisinger AJ, Shortland JR, Moorhead PJ (1972) Renal disease in partial lipodostrophy. QJ Med 41:343–354Google Scholar
  11. 11.
    Peters DK, Charlesworth JA, Sissons JG et al (1973) Mesangiocapillary nephritis, partial lipodystrophy and hypocomplementaemia. Lancet 2:538–539Google Scholar
  12. 12.
    Williams DG, Bartlett A, Duffus P (1978) Identification of nephritic factor as an immunoglobulin. Clin Exp Immunol 33:425–429PubMedGoogle Scholar
  13. 13.
    Wrst CD, McAdams AJ(1999) The alternative pathway C3 convertase and glomerular deposits. Pediatr Nephrol 13:448–453CrossRefGoogle Scholar
  14. 14.
    Mathieson PW, Wurzner R, Oliveria DB et al (1993) Complement-mediated adipocyte lysis by nephritic factor sera. J Exp Med 177:1827–1831PubMedCrossRefGoogle Scholar
  15. 15.
    Walport MJ, Davies KA, Botto M et al (1994) C3 nephritic factor, and SLE: report of four cases and review of the literature. QJ Med 87:609–615Google Scholar
  16. 16.
    Font J, Herrero C, Bosch X et al(1990) Systematic lupus erythematosus in a patient with partial lipodystrophy. J Am Acad Dermatol 22:337–340PubMedGoogle Scholar
  17. 17.
    Cronin CC, Higgins T, Mollory M (1995) Lupus, C3 nephritic factor and partial lipodystrophy. QJ Med 88:298–299Google Scholar
  18. 18.
    Torrelo A, Espana A, Boixeda P, Ledo A (1991) Partial lipodistrophy and dermatomyositis. Arch Dermatol 127:1846–1847PubMedCrossRefGoogle Scholar
  19. 19.
    Atlan Gepner C, Bongrand P, Fornasier C et al (1996) Insulin induced lipoatrophy in type I diabetes. A possible tumor necrosis factor alpha-mediated differentiation of adipocytes. Diabetes Care 19:1283–1285PubMedCrossRefGoogle Scholar
  20. 20.
    Imamura S, Yamada M, Yamamoto K (1984) Lipodystrophya centrifugalis abdominalis infantilis. A follow-up study. J Am Acad Dermatol 11:203–209PubMedGoogle Scholar
  21. 21.
    Berardinelli W (1954) An undiagnosed endocrinometabolic syndrome report of 2 cases. J Clin Endocrinol Metab 14:193–204PubMedCrossRefGoogle Scholar
  22. 22.
    Scip M (1959) Lipodistrophy and gigantism with associated endocrine manifestation: a new diencephalic syndrome? Acta Paediatr 48:555–574Google Scholar
  23. 23.
    Seip M, Trygstad O (1996) Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr 413:2–28Google Scholar
  24. 24.
    Garg A, Flecknstein JL, Peshork RM, Grundy SM (1992) Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy. J Clin Endocrinol Metab 75:358–361PubMedCrossRefGoogle Scholar
  25. 25.
    Enzi G, Cominacini L, Dodi G et al (1988) Lipid metabolism in lipoatrophic diabetes. Horm Metabol Res 20:587–591CrossRefGoogle Scholar
  26. 26.
    Agarwal AK, Arioglu A, de Almeida S et al (2002) AGPA2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 31:21–23PubMedCrossRefGoogle Scholar
  27. 27.
    Agarwal AK, Simha V, Oral EA et al (2003) Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab 88:4840–4847PubMedCrossRefGoogle Scholar
  28. 28.
    Simha V, Garg A (2003) Phenotypic heterogeneity in body fat distribution in patient with congenital generalized lipodystrophy caused by mutation in the AGPAT2 or Scipin genes. J Clin Endocrinol Metab 88:5433–5437PubMedCrossRefGoogle Scholar
  29. 29.
    Van Maldergem L, Magre J, Khallonf E et al (2003) Genotype-phenotype relationships in Berardinelli-Scip congenital lipodystrophy. J Med Genet 40:150CrossRefGoogle Scholar
  30. 30.
    Magre J, Delpine M, Khallonf E et al (2001) Identification of the gene altered in Berardinelli-Scip congenital lipodystrophy on chromosome 1 Iql3. Nat Genet 28:365–370PubMedCrossRefGoogle Scholar
  31. 31.
    Garg A, Wilson R, Barnes R et al (1994) A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab 84:3390–3394CrossRefGoogle Scholar
  32. 32.
    Dunningam MG, Cochrane MA, Kelly A, Scott JW (1974) Familial lipoatrophic diabetes with dominant transmission: a new syndrome. QJ Med 49:33–48Google Scholar
  33. 33.
    Peters JM, Bannes R, Bennet L et al (1998) Localization of the gene for familial partial lipodystrophy (Dunningan variety) to chromosome Iq21-22. Nature Genet 18:292–295PubMedCrossRefGoogle Scholar
  34. 34.
    Kobberling J, Willms B, Katterman R, Creutzfeld W (1975) Lipodystrophy of the extremities. A dominant inherited syndrome associated with lipoatrophyc diabetes. Humangenetik 29:111–120PubMedCrossRefGoogle Scholar
  35. 35.
    Agarwal AK, Garg A (2002) A novel heterozygous mutation in perixosome proliferators activated receptorgamma gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab 87:418–419CrossRefGoogle Scholar
  36. 36.
    Barroso I, Gurnell M, Crowley VE et al (1999) Dominant negative mutation in human PPAR-gamma associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 402:880–883PubMedGoogle Scholar
  37. 37.
    Garg A, Vinaitherthan M, Weatherale PT, Boncork AM (2001) Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunningan variety) related to the site of missense mutation in lamin A/C gene. J Clin Endocrinol Metab 86:59–65PubMedCrossRefGoogle Scholar
  38. 38.
    Young LW, Radebaugh JF, Rubin P et al (1971) New syndrome manifested by mandibular hypoplasia, acroosteolysis, still joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth defects 7:291–297PubMedGoogle Scholar
  39. 39.
    Simba V, Garg A (2002) Bodyfat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab 87:776–785CrossRefGoogle Scholar
  40. 40.
    Novelli G, Munchir A, Sangiuolo F et al (2002) Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71:426–431PubMedCrossRefGoogle Scholar
  41. 41.
    Agarwal AK, Fryns JP, Auchus RJ, Garg A (2003) Zinc metalloproteinase ZMPSTE 24 is mutated in mandibuloacral dysplasia. Hum Mol Genet 12:1995–2001PubMedCrossRefGoogle Scholar
  42. 42.
    Sensenbrenner JA, Hussels IE, Levin LS (1975) A low birth weight syndrome, Riegen syndrome? Birth Defects Orig Artic Ser 11:423–426PubMedGoogle Scholar
  43. 43.
    Pivnick EK, Angle B, Kaufman RA et al (2000) 0Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. Am J Med Genet 90:131–140PubMedCrossRefGoogle Scholar
  44. 44.
    Caux F, Dubosclard E, Lascols O et al (2003) A new clinical condition linked to a novel mutation in lamin A and C with generalized lipodystrophy, insulin resistant diabetes, disseminated leukomelanodermic papules, liver steatosis and cardiomyopathy. J Clin Endocrinol Metab 88:1006–1013PubMedCrossRefGoogle Scholar
  45. 45.
    Busetto L, Sträter D, Enzi G et al (2003) Differential clinical expression of multiple symmetric lipomatosis in men and women. Int J Obesity 27:1419–1422CrossRefGoogle Scholar
  46. 46.
    Zancanaro C, Sbarbati A, Morrini M et al (1990) Multiple symmetric lipomatosis. Ultrastructural investigation of the tissue and preadipocytes in primary culture. Lab Invest 63:253–258PubMedGoogle Scholar
  47. 47.
    Cinti S, Enzi G, Cigolini M, Bosello O (1983) Ultrastructural features of cultured mature adipocyte precursors from adipose tissue in multiple symmetric lipomatosis. Ultrastruct Pathol 5:145–152PubMedGoogle Scholar
  48. 48.
    Enzi G, Busetto L, Ceschin E et al (2002) Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. Int J Obesity 26:253–261CrossRefGoogle Scholar
  49. 49.
    Enzi G, Angelini C, Negrin P et al (1986) Sensory, motor and autonomie neuropathy in patients with multiple symmetric lipomatosis. Medicine 64:388–393Google Scholar
  50. 50.
    Enzi G, Dorigo P, Prosdocimi M et al (1977) Multiple symmetric lipomatosis: a defect in adrenergic stimulated lipolysis. J Clin Invest 60:1221–1229PubMedCrossRefGoogle Scholar
  51. 51.
    Enzi G, Martini S, Baggio G et al (1985) Lipoprotein metabolism in patients with elevated lipoproteinlipase activity in adipose tissue. Int J Obesity 9:173–176Google Scholar
  52. 52.
    Coin A, Enzi G, Bussolotto M et al (2000) Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction. J Clin Neuromusc Dis 1:124–130CrossRefGoogle Scholar
  53. 53.
    Nisoli E, Regianini L, Briscini L et al(2002) Multiple symmetric lipomatosis may be the consequence of detective noradrenergic modulation of proliferation of brown fat cells. J Pathol 198:378–387PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Italia 2006

Authors and Affiliations

  • Giuliano Enzi
    • 1
  • Luca Busetto
    • 1
  • Giuseppe Sergi
    • 1
  • Sabrina Pigozzo
    • 1
  1. 1.Department of Medical and Surgical Sciences, Geriatrics DivisionUniversity of PaduaPaduaItaly

Personalised recommendations