Lipodystrophies

American Journal of Medicine

Volumn 108, Issue 2, 2000, Pages 143-152

  Garg, Abhimanyu ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN;

ADIPOSE TISSUE; DIABETES MELLITUS; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; LIPID STORAGE; LIPODYSTROPHY; PRIORITY JOURNAL; REVIEW; SUBCUTANEOUS FAT;

ADIPOSE TISSUE; DIABETES MELLITUS, LIPOATROPHIC; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; LIPODYSTROPHY; MALE;

EID: 0033964872     PISSN: 00029343     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9343(99)00414-3     Document Type: Review

References (102)

1. Foster D.W. The lipodystrophies and other rare disorders of adipose tissue. Fauci A.S., Braunwald E., Isselbacher K.J., et al. Harrison's Principles of Internal Medicine. 1998;2209-2214 McGraw-Hill, New York.
2. Mitchell S.W. Singular case of absence of adipose matter in the upper half of the body. Am J Med Sci. 90:1885;105-106.
3. Berardinelli W. An undiagnosed endocrinometabolic syndrome report of 2 cases . J Clin Endocrinol Metab. 14:1954;193-204.
4. Seip M. Lipodystrophy and gigantism with associated endocrine manifestations a new diencephalic syndrome? Acta Paediatrica. 48:1959;555-574.
5. Seip M., Trygstad O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr. 413:(suppl):1996;2-28.
6. Westvik J. Radiological features in generalized lipodystrophy. Acta Paediatr. 413:(suppl):1996;44-51.
7. Garg A., Fleckenstein J.L., Peshock R.M., Grundy S.M. Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy. J Clin Endocrinol Metab. 75:1992;358-361.
8. Pardini V.C., Victoria I.M., Rocha S.M., et al. Leptin levels, beta-cell function, and insulin sensitivity in families with congenital and acquired generalized lipoatropic diabetes. J Clin Endocrinol Metab. 83:1998;503-508.
9. Garg A., Chandalia M., Vuitch F. Severe islet amyloidosis in congenital generalized lipodystrophy. Diabetes Care. 19:1996;28-31.
10. Case records of the Massachusetts General Hospital. NEJM 1975;292:35-41.
11. Chandalia M., Garg A., Vuitch F., Nizzi F. Postmortem findings in congenital generalized lipodystrophy. J Clin Endocrinol Metab. 80:1995;3077-3081.
12. Brunzell J.D., Shankle S.W., Bethune J.E. Congenital generalized lipodystrophy accompanied by cystic angiomatosis. Ann Intern Med. 69:1968;501-516.
13. Fleckenstein J.L., Garg A., Bonte F.J., Vuitch M.F., Peshock R.M. The skeleton in congenital generalized lipodystrophy evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy . Skel Radiol. 21:1992;381-386.
14. Rheuban K.S., Blizzard R.M., Parker M.A., Carter T., Wilson T., Gutgesell H.P. Hypertrophic cardiomyopathy in total lipodystrophy. J Pediatr. 109:1986;301-302.
15. Bjornstad P.G., Foerster A., Ihlen H. Cardiac findings in generalized lipodystrophy. Acta Paediatr. 413:(suppl):1996;39-43.
16. Wilson T.A., Alford B.A., Morris L. Cerebral computed tomography in lipodystrophy. Arch Neurol. 39:1982;733.
17. Sovik O., Vestergaard H., Trygstad O., Pederson O. Studies of insulin resistance in congenital generalised lipodystrophy. Acta Paediatr. 413:(suppl):1996;29-38.
18. Moller D.E., Cohen O., Yamaguchi Y., et al. Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. Diabetes. 43:1994;247-255.
19. Vigouroux C., Khallouf E., Bourut C.J., et al. Genetic exclusion of 14 candidate genes in lipoatropic diabetes using linkage analysis in 10 consanguineous families. J Clin Endocrinol Metab. 82:1997;3438-3444.
20. Vigouroux C., Fajas L., Khallouf E., et al. Human peroxisome proliferator-activated receptor-gamma2 genetic mapping, identification of a variant in the coding sequence, and exclusion as the gene responsible for lipoatrophic diabetes . Diabetes. 47:1998;490-492.
21. Silver K., Walston J., Plotnick L., Taylor S.I., Kahn C.R., Shuldiner A.R. Molecular scanning of beta-3-adrenergic receptor gene in total congenital lipoatrophic diabetes mellitus. J Clin Endocrinol Metab. 82:1997;3395-3398.
22. Okazawa H., Mori H., Tamori Y., et al. No coding mutations are detected in the peroxisome proliferator-activated receptor-gamma gene in Japanese patients with lipoatrophic diabetes. Diabetes. 46:1997;1904-1906.
23. Garg A., Wilson R., Barnes R., et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab. 84:1999;3390-3394.
24. Klaus S. Functional differentiation of white and brown adipocytes. BioEssays. 19:1997;215-223.
25. Ozer FL, Lichtenstein JR, Kwiterovich PO, McKusick VA. A new genetic variety of lipodystrophy. Clin Res 1973;21:533. Abstract.
26. Dunnigan M.G., Cochrane M.A., Kelly A., Scott J.W. Familial lipoatrophic diabetes with dominant transmission a new syndrome . Q J Med. 49:1974;33-48.
27. Kobberling J., Willms B., Kattermann R., Creutzfeldt W. Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipoatrophic diabetes. Humangenetik. 29:1975;111-120.
28. Kobberling J., Dunnigan M.G. Familial partial lipodystrophy two types of an X linked dominant syndrome, lethal in the hemizygous state . J Med Genet. 23:1986;120-127.
29. Davidson M.B., Young R.T. Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. Diabetologia. 11:1975;561-568.
30. Kobberling J., Schwarck H., Cremer P., Fiechtl J., Seidel D., Creutzfeldt W. Partielle Lipodystrophie mit lipatrophischem Diabetes und Hyperlipoproteinamie. Verhandlungen der deutschen Gesellschaft fur Innere Medizin. 87:1981;958-961.
31. Robbins D.C., Horton E.S., Tulp O., Sims E.A.H. Familial partial lipodystrophy complications of obesity in the non-obese? Metabolism. 31:1982;445-452.
32. Jackson S.N., Howlett T.A., McNally P.G., O'Rahilly S., Trembath R.C. Dunnigan-Kobberling syndrome an autosomal dominant form of partial lipodystrophy . Q J Med. 90:1997;27-36.
33. Ursich M.J., Fukui R.T., Galvao M.S., et al. Insulin resistance in limb and trunk partial lipodystrophy (type 2 Kobberling-Dunnigan Syndrome). Metabolism. 46:1997;159-163.
34. Peters J.M., Barnes R., Bennett L., Gitomer W.M., Bowcock A.M., Garg A. Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. Nature Genet. 18:1998;292-295.
35. Jackson S.N.J., Pinkney J., Bargiotta A., et al. A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q. Am J Hum Genet. 63:1998;534-540.
36. Anderson J.L., Khan M., David W.S., et al. Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. Am J Med Genet. 82:1999;161-165.
37. Garg A., Peshock R.M., Fleckenstein J.L. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab. 84:1999;170-174.
38. Garg A, Fleckenstein JL, Abate N. Insulin resistance and body fat distribution in a male patient with familial partial lipodystrophy (FPL). Clin Res 1994;42:199A. Abstract.
39. Hook B., Adam W. Partielles Lipodystrophie syndrom (Typ Kobberling). Z Hautkr. 58:1983;1348.
40. Sensenbrenner J.A., Fiorelli G. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Bergsma D. The Clinical Delineation of Birth Defects Orofacial Structures . 1971;293-297 Williams & Wilkins, Baltimore.
41. Cutler D.L., Kaufmann S., Freidenberg G.R. Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia a newly recognized form of partial lipodystrophy . J Clin Endocrinol Metab. 73:1991;1056-1061.
42. Freidenberg G.R., Cutler D.L., Jones M.C., et al. Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. Am J Dis Child. 146:1992;93-99.
43. Ziegler L.H. Lipodystrophies report of seven cases . Brain. 51:1928;145-167.
44. Lawrence R.D. Lipodystrophy and hepatomegaly with diabetes, lipemia, and other metabolic disturbances. Lancet. i:1946;724-731.
45. Senior B., Gellis S.S. The syndromes of total lipodystrophy and of partial lipodystrophy. Pediatrics. 33:1964;593-612.
46. Franklin B., Ginsberg H., Haque W.U., et al. Very low-density lipoprotein metabolism in an unusual case of lipoatrophic diabetes. Metab Clin Exp. 33:1984;814-819.
47. Golden J.P., Charles M.A., Arquilla E.R., et al. Insulin resistance in total lipodystrophy evidence for a pre-receptor defect in insulin action . Metabolism. 34:1985;330-335.
48. Stacpoole P.W., Alig J., Kilgore L.L., et al. Lipodystrophic diabetes mellitus. Investigations of lipoprotein metabolism and the effects of omega-3 fatty acid administration in two patients. Metabolism. 37:1988;944-951.
49. Klein S., Jahoor F., Wolfe R.R., Stuart C.A. Generalized lipodystrophy in vivo evidence for hypermetabolism and insulin-resistant lipid, glucose, and amino acid kinetics . Metabolism. 41:1992;893-896.
50. Wachslicht-Rodbard H, Muggeo M., Kahn C.R., Saviolakis G.A., Harrison L.C., Flier J.S. Heterogeneity of the insulin-receptor interaction in lipoatropic diabetes. J Clin Endocrinol Metab. 52:1981;416-425.
51. Kikkawa R., Hoshi M., Shigeta Y., Izumi K. Lack of ketosis in lipoatrophic diabetes. Diabetes. 21:1972;827-831.
52. Goebel F.D., Dorfler H., Goebel H.H., Zollner N. Muscle capillary basement membrane thickness in lipoatrophic diabetes. Res Exp Med. 171:1977;271-276.
53. Tsagournis M., George J., Herrold J. Increased growth hormone in partial and total lipodystrophy. Diabetes. 22:1973;388-396.
54. Davis J., Tizard J.P.M. Generalized lipodystrophy. Infectious mononucleosis. Mild infantile hemiplegia. Proc Royal Soc Med. 47:1954;128-129.
55. Billings J.K., Milgraum S.S., Gupta A.K., Headington J.T., Rasmussen J.E. Lipoatrophic panniculitis a possible autoimmune inflammatory disease of fat . Arch Dermatol. 123:1987;1662-1666.
56. Edge J., Dunger D.B., Dillon M.J. Weber-Christian panniculitis and chronic active hepatitis. Eur J Pediatr. 145:1986;227-229.
57. Smith B.P., Burns T.W., Leigh C.C. Diabetes mellitus and lipoatrophy. South Med J. 83:1990;573-576.
58. Sasaki T., Ono H., Nakajima H., Sugimoto J. Lipoatrophic diabetes. J Dermatol. 19:1992;246-249.
59. Catalano P., Capeless E., Simmons G., Robbins D. Successful pregnancy outcome in association with lipoatrophic diabetes mellitus. Obstet Gynecol. 76:1990;978-979.
60. Hubler A., Abendroth K., Keiner T., et al. Dysregulation of insulin-like growth factors in a class of generalized acquired lipoatrophic diabetes mellitus (Lawrence-syndrome) connected with autoantibodies against adipocyte membranes. Exper Clin Endocrinol Diabet. 106:1998;79-84.
61. Barraquer L. Histoire clinique d'un cas d'atrophie du tissu celluloadipeux. Neurolog Zentralblatt. 26:1907;1072.
62. Simons A. Eine seltnen Trophoneurose "Lipodystrophia progressiva" Z Ges Neurol Psychiat. 5:1911;29-38.
63. Poley J.R., Stickler G.B. Progressive lipodystrophy a clinical study of 50 patients . Am J Dis Child. 106:1963;66-73.
64. Eisinger A.J., Shortland J.R., Moorhead P.J. Renal disease in partial lipodystrophy. Q J Med. 41:1972;343-354.
65. Peters D.K., Charlesworth J.A., Sissons J.G., et al. Mesangiocapillary nephritis, partial lipodystrophy, and hypocomplementaemia. Lancet. ii:1973;535-538.
66. Sissons J.G.P., West R.J., Fallows J., et al. The complement abnormalities of lipodystrophy. NEJM. 294:1976;461-465.
67. Ipp M.M., Minta J.O., Gelfand E.W. Disorders of the complement system in lipodystrophy. Clin Immunol Immunopathol. 7:1977;281-287.
68. Jasin H.E. Systemic lupus erythematosus, partial lipodystrophy and hypocomplementemia. J Rheumatol. 6:1979;43-50.
69. McLean R.H., Hoefnagel D.H. Partial lipodystrophy and familial C3 deficiency. Hum Hered. 30:1980;149-154.
70. Yuh W.T.C., Collison J.S., Sickels W.J., Barloon T.J., Brennan D.C., Flanigan M.J. Partial lipodystrophy. Magnetic resonance findings in one case. J Comp Tomogr. 12:1988;287-291.
71. O'Mahony D., O'Mahony S., Whelton M.J., McKiernan J. Partial lipodystrophy in coeliac disease. Gut. 31:1990;717-718.
72. Font J., Herrero C., Bosch X., Cervera R., Ingelmo M., Mascaro J.M. Systematic lupus erythematosus in a patient with partial lipodystrophy. J Am Acad Dermatol. 22:1990;337-340.
73. Walport M.J., Davies K.A., Botto M., et al. C3 nephritic factor, and SLE report of four cases and review of the literature . Q J Med. 87:1994;609-615.
74. Cronin C.C., Higgins T., Molloy M. Lupus, C3 nephritic factor and partial lipodystrophy. Q J Med. 88:1995;298-299.
75. Torrelo A., Espana A., Boixeda P., Ledo A. Partial lipodystrophy and dermatomyositis. Arch Dermatol. 127:1991;1846-1847.
76. Peter J.H., Gregoor S., van Bommel EFH, Ketterings C., van Saase J.L.C.M., Kramer P. Progressive lipodystrophy, a diagnosis at a glance. Nephrol Dial Transplant. 13:1998;507-509.
77. Williams D.G., Bartlett A., Duffus P. Identification of nephritic factor as an immunoglobulin. Clin Exp Immunol. 33:1978;425-429.
78. Mathieson P.W., Peters K. Are nephritic factors nephritogenic? Am J Kidney Dis. 24:1994;964-966.
79. Mathieson P.W., Wurzner R., Oliveira D.B.G., Lachmann P.J., Peters D.K. Complement-mediated adipocyte lysis by nephritic factor sera. J Exp Med. 177:1993;1827-1831.
80. Peake P., O'Grady S., Pussell B., Charlesworth J. Detection and quantification of the control proteins of the alternative pathway of complement in 3T3-L1 adipocytes. Eur J Clin Invest. 27:1997;922-927.
81. Mathieson P., Peters D. Lipodystrophy in MCGN type II the clue to links between the adipocyte and the complement system . Nephrol Dial Transplant. 12:1997;1804-1806.
82. Lo J.C., Mulligan K., Tai V.W., Algren H., Schambelan M. "Buffalo hump" in men with HIV-1 infection. Lancet. 351:1998;867-870.
83. Miller K.D., Jones E., Yanovski J.A., Shankar R., Feuerstein I., Falloon J. Visceral abdominal-fat accumulation associated with use of indinavir. Lancet. 351:1998;871-875.
84. Carr A., Samaras K., Burton S., et al. A syndrome of peripheral lipodystrophy, hyperlipidaemia and insulin resistance in patients receiving HIV protease inhibitors. AIDS. 12:1998;F51-F58.
85. Carr A., Samaras K., Thorisdottir A., Kaufmann G.R., Chisolm D.J., Cooper D.A. Diagnosis, prediction, and natural course of HIV-1 protease-inhibitor-associated lipodystrophy, hyperlipidaemia, and diabetes mellitus a cohort study . Lancet. 353:1999;2093-2099.
86. Reeves W., Allan B., Tattersall R. Insulin-induced lipoatrophy evidence for an immune pathogenesis . BMJ. 280:1980;1500-1505.
87. Atlan-Gepner C, Bongrand P., Farnarier C., et al. Insulin-induced lipoatrophy in type I diabetes. A possible tumor necrosis factor-alpha-mediated dedifferentiation of adipocytes. Diabetes Care. 19:1996;1283-1285.
88. Andre P. Lipo-atrophie post-cortisonique traitee par greffe autologue d'ilots adipocytaires. Ann Dermatol Venereol. 117:1990;733-734.
89. Kayikcioglu A., Akyurek M., Erk Y. Semicircular lipoatrophy after intragluteal injection of benzathine penicillin. J Pediatr. 129:1996;166-167.
90. Dahl P.R., Zalla M.J., Winkelmann R.K. Localized involutional lipoatrophy a clinicopathologic study of 16 patients . J Am Acad Dermatol. 35:1996;523-528.
91. Hodak E., David M., Sandbank M. Semicircular lipoatrophy a pressure-induced lipoatrophy? Clin Exp Dermatol. 15:1990;464-465.
92. Tsuji T., Kosaka K., Terao J. Localized lipodystrophy with panniculitis light and electron microscopic studies . J Cutan Pathol. 16:1989;359-364.
93. Imamura S., Yamada M., Ikeda T. Lipodystrophia centrifugalis abdominalis infantilis. Arch Dermatol. 104:1971;291-298.
94. Caputo R. Lipodystrophia centrifugalis sacralis infantilis. A 15-year follow-up observation. Acta Derm Venereol. 69:1989;442-443.
95. Imamura S., Yamada M., Yamamoto K. Lipodystrophia centrifu-galis abdominalis infantilis. A follow-up study. J Am Acad Dermatol. 11:1984;203-209.
96. Baxter H., Entin M.A., Drummond J.A. Studies in progressive lipodystrophy. Canad Med Assoc J. 59:1948;452-458.
97. Hurwitz P.J., Sarel R. Facial reconstruction in partial lipodystrophy. Ann Plas Surg. 8:1982;253-257.
98. Zafarulla M.Y.M. Lipodystrophy a case report of partial lipodystrophy . Br J Oral Maxillo Surg. 23:1985;53-57.
99. Mork N., Rajka G., Halse J. Treatment of acanthosis nigricans with etretinate (Tigason) in a patient with Lawrence-Seip syndrome (generalized lipodystrophy). Acta Derm Venereol. 66:1986;173-174.
100. Schretz E. Improved acanthosis nigricans with lipodystrophic diabetes during dietary fish oil supplementation. Arch Dermatol. 124:1988;1094-1096.
101. Wilson D.E., Chan I., Stevenson K.B., Horton S.C., Schipke C. Eucaloric substitution of medium chain triglycerides for dietary long chain fatty acids in acquired total lipodystrophy effects on hyperlipoproteinemia and endogenous insulin resistance . J Clin Endocrinol Metab. 57:1983;517-523.
102. Robbins D.C., Danforth E. Jr, Horton E.S., Burse R.L., Goldman R.F., Sims E.A.H. The effect of diet on thermogenesis in acquired lipodystrophy. Metabolism. 28:1979;908-916.