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Lipoatrophic diabetes

MedGen UID:
4256
•Concept ID:
C0011859
•
Disease or Syndrome
Synonyms: Diabete, Lipoatrophic; Diabetes Mellitus, Lipoatrophic; Diabetes, Lipoatrophic; Lipoatrophic Diabete; Lipoatrophic Diabetes; Lipoatrophic Diabetes Mellitus
SNOMED CT: Lipodystrophic diabetes (127012008); Lipoatrophic diabetes (127012008)
 
Monarch Initiative: MONDO:0005827

Definition

A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLipoatrophic diabetes
Follow this link to review classifications for Lipoatrophic diabetes in Orphanet.

Professional guidelines

PubMed

Problems in differential diagnosis of diabetes types.
Małecki M, Skupień J
Pol Arch Med Wewn 2008 Jul-Aug;118(7-8):435-40. PMID: 18714740
The thrifty genotype in type 2 diabetes: an unfinished symphony moving to its finale?
Joffe B, Zimmet P
Endocrine 1998 Oct;9(2):139-41. doi: 10.1385/ENDO:9:2:139. PMID: 9867247
Letter: Management of lipoatrophic diabetes.
Upton GV, Corbin A, Mabry CC, Hollingsworth DR
N Engl J Med 1975 Mar 13;292(11):592. doi: 10.1056/NEJM197503132921115. PMID: 1110678

Curated

UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

Recent clinical studies

Etiology

A multicenter, open-label, single-arm trial of the long-term safety of empagliflozin treatment for refractory diabetes mellitus with insulin resistance (EMPIRE-02).
Hirota Y, Kakei Y, Imai J, Katagiri H, Ebihara K, Wada J, Suzuki J, Urakami T, Omori T, Ogawa W
J Diabetes Investig 2024 Sep;15(9):1211-1219. Epub 2024 May 4 doi: 10.1111/jdi.14226. PMID: 38702973Free PMC Article
Lipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes.
Treiber G, Guilleux A, Huynh K, Bonfanti O, Flaus-Furmaniuk A, Couret D, Mellet N, Bernard C, Le-Moullec N, Doray B, Jéru I, Maiza JC, Domun B, Cogne M, Meilhac O, Vigouroux C, Meikle PJ, Nobécourt E
Diabetes Metab 2023 Mar;49(2):101409. Epub 2022 Nov 15 doi: 10.1016/j.diabet.2022.101409. PMID: 36400409
Generalized lipoatrophy syndromes.
Sorkina E, Chichkova V
Presse Med 2021 Nov;50(3):104075. Epub 2021 Sep 22 doi: 10.1016/j.lpm.2021.104075. PMID: 34562560
Problems in differential diagnosis of diabetes types.
Małecki M, Skupień J
Pol Arch Med Wewn 2008 Jul-Aug;118(7-8):435-40. PMID: 18714740
Lipoatrophy revisited.
Reitman ML, Arioglu E, Gavrilova O, Taylor SI
Trends Endocrinol Metab 2000 Dec;11(10):410-6. doi: 10.1016/s1043-2760(00)00309-x. PMID: 11091118

Diagnosis

Lipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes.
Treiber G, Guilleux A, Huynh K, Bonfanti O, Flaus-Furmaniuk A, Couret D, Mellet N, Bernard C, Le-Moullec N, Doray B, Jéru I, Maiza JC, Domun B, Cogne M, Meilhac O, Vigouroux C, Meikle PJ, Nobécourt E
Diabetes Metab 2023 Mar;49(2):101409. Epub 2022 Nov 15 doi: 10.1016/j.diabet.2022.101409. PMID: 36400409
Generalized lipoatrophy syndromes.
Sorkina E, Chichkova V
Presse Med 2021 Nov;50(3):104075. Epub 2021 Sep 22 doi: 10.1016/j.lpm.2021.104075. PMID: 34562560
Visual Vignette.
Yang AJ, Magill SB
Endocr Pract 2020 Oct;26(10):1230. doi: 10.4158/EP-2019-0592. PMID: 33471725
The multifaceted nature of diabetes mellitus induced by checkpoint inhibitors.
Marchand L, Disse E, Dalle S, Reffet S, Vouillarmet J, Fabien N, Thivolet C, Cugnet-Anceau C
Acta Diabetol 2019 Dec;56(12):1239-1245. Epub 2019 Aug 19 doi: 10.1007/s00592-019-01402-w. PMID: 31423559
Lipodystrophies.
Garg A
Am J Med 2000 Feb;108(2):143-52. doi: 10.1016/s0002-9343(99)00414-3. PMID: 11126308

Therapy

Visual Vignette.
Yang AJ, Magill SB
Endocr Pract 2020 Oct;26(10):1230. doi: 10.4158/EP-2019-0592. PMID: 33471725
The multifaceted nature of diabetes mellitus induced by checkpoint inhibitors.
Marchand L, Disse E, Dalle S, Reffet S, Vouillarmet J, Fabien N, Thivolet C, Cugnet-Anceau C
Acta Diabetol 2019 Dec;56(12):1239-1245. Epub 2019 Aug 19 doi: 10.1007/s00592-019-01402-w. PMID: 31423559
Immunologic insulin resistance.
Davidson JK, DeBra DW
Diabetes 1978 Mar;27(3):307-18. doi: 10.2337/diab.27.3.307. PMID: 640236
Hypothesis: hypothalamic dysfunction and lipoatrophic diabetes.
Upton GV, Corbin A
Yale J Biol Med 1973 Oct;46(4):314-23. PMID: 4365697Free PMC Article
Lipoatrophic diabetes.
Hamwi GJ, Kruger FA, Eymontt MJ, Scarpelli DG, Gwinup G, Byron R
Diabetes 1966 Apr;15(4):262-8. doi: 10.2337/diab.15.4.262. PMID: 5929541

Prognosis

A multicenter, open-label, single-arm trial of the long-term safety of empagliflozin treatment for refractory diabetes mellitus with insulin resistance (EMPIRE-02).
Hirota Y, Kakei Y, Imai J, Katagiri H, Ebihara K, Wada J, Suzuki J, Urakami T, Omori T, Ogawa W
J Diabetes Investig 2024 Sep;15(9):1211-1219. Epub 2024 May 4 doi: 10.1111/jdi.14226. PMID: 38702973Free PMC Article
Clinical and laboratory features of youth onset type 2 diabetes in Jamaica.
Tulloch-Reid MK, Boyne MS, Smikle MF, Choo-Kang EG, Parkes RH, Wright-Pascoe RA, Barton EN, Wilks RJ, Williams DE
West Indian Med J 2010 Mar;59(2):131-8. PMID: 21275116
Problems in differential diagnosis of diabetes types.
Małecki M, Skupień J
Pol Arch Med Wewn 2008 Jul-Aug;118(7-8):435-40. PMID: 18714740
Lipoatrophic diabetes in an elderly woman: clinical course and serum adipocytokine concentrations.
Iglesias P, Alvarez Fidalgo P, Codoceo R, Díez JJ
Endocr J 2004 Jun;51(3):279-86. doi: 10.1507/endocrj.51.279. PMID: 15256772
Lipodystrophy in patients with juvenile dermatomyositis--evaluation of clinical and metabolic abnormalities.
Huemer C, Kitson H, Malleson PN, Sanderson S, Huemer M, Cabral DA, Chanoine JP, Petty RE
J Rheumatol 2001 Mar;28(3):610-5. PMID: 11296968

Clinical prediction guides

A multicenter, open-label, single-arm trial of the long-term safety of empagliflozin treatment for refractory diabetes mellitus with insulin resistance (EMPIRE-02).
Hirota Y, Kakei Y, Imai J, Katagiri H, Ebihara K, Wada J, Suzuki J, Urakami T, Omori T, Ogawa W
J Diabetes Investig 2024 Sep;15(9):1211-1219. Epub 2024 May 4 doi: 10.1111/jdi.14226. PMID: 38702973Free PMC Article
EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence.
Gautheron J, Morisseau C, Chung WK, Zammouri J, Auclair M, Baujat G, Capel E, Moulin C, Wang Y, Yang J, Hammock BD, Cerame B, Phan F, Fève B, Vigouroux C, Andreelli F, Jeru I
Elife 2021 Aug 3;10 doi: 10.7554/eLife.68445. PMID: 34342583Free PMC Article
Clinical and laboratory features of youth onset type 2 diabetes in Jamaica.
Tulloch-Reid MK, Boyne MS, Smikle MF, Choo-Kang EG, Parkes RH, Wright-Pascoe RA, Barton EN, Wilks RJ, Williams DE
West Indian Med J 2010 Mar;59(2):131-8. PMID: 21275116
Lipoatrophic diabetes and end-stage liver disease secondary to nonalcoholic steatohepatitis with recurrence after liver transplantation.
Cauble MS, Gilroy R, Sorrell MF, Mailliard ME, Sudan DL, Anderson JC, Wisecarver JL, Balakrishnan S, Larsen JL
Transplantation 2001 Apr 15;71(7):892-5. doi: 10.1097/00007890-200104150-00012. PMID: 11349722
Congenital generalized lipodystrophy and experimental lipoatrophic diabetes in rabbits treated successfully with fenfluramine.
Trygstad O, Foss I
Acta Endocrinol (Copenh) 1977 Jun;85(2):436-48. doi: 10.1530/acta.0.0850436. PMID: 577333

Recent systematic reviews

Growth hormone axis treatments for HIV-associated lipodystrophy: a systematic review of placebo-controlled trials.
Sivakumar T, Mechanic O, Fehmie DA, Paul B
HIV Med 2011 Sep;12(8):453-62. Epub 2011 Jan 25 doi: 10.1111/j.1468-1293.2010.00906.x. PMID: 21265979

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    Curated

    • NICE, 2019
      UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

    Consumer resources

    Reviews

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