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Acquired partial lipodystrophy

MedGen UID:
66352
Concept ID:
C0220989
Disease or Syndrome
Synonyms: Barraquer-Simons syndrome; Lipodystophy partial progressive; Lipodystrophy cephalothoracic type; LIPODYSTROPHY, PARTIAL, PROGRESSIVE
SNOMED CT: Acquired partial lipodystrophy (75659004); Lipodystrophic diabetes with partial lipoatrophy (75659004); Barraquer syndrome (75659004); Barraquer-Simons syndrome (75659004); Hollander-Simons syndrome (75659004); Progressive partial lipodystrophy (75659004); Progressive lipodystrophy (75659004); Macrodystrophia lipomatosa progressiva (75659004); Partial lipoatrophy (75659004); Barraquer-Simons disease (75659004)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0012104
Orphanet: ORPHA79087

Definition

Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et al., 2004). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1). There is an association between APLD and autoimmune diseases (Misra and Garg, 2003; Misra et al., 2004), and a subset of patients have APLD associated with low serum complement component C3 and the autoantibody C3 nephritic factor, with or without membranoproliferative glomerulonephritis (APLDC3; 613913). Acquired partial lipodystrophy is distinct from inherited forms of partial lipodystrophy, which are metabolic disorders that show clear mendelian inheritance (see, e.g., FPLD1, 608600). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcquired partial lipodystrophy
Follow this link to review classifications for Acquired partial lipodystrophy in Orphanet.

Professional guidelines

PubMed

Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article

Recent clinical studies

Etiology

Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
Corvillo F, Akinci B
Mol Immunol 2019 Aug;112:223-232. Epub 2019 Jun 6 doi: 10.1016/j.molimm.2019.05.011. PMID: 31177059
Hussain I, Patni N, Garg A
Pathology 2019 Feb;51(2):202-212. Epub 2018 Dec 27 doi: 10.1016/j.pathol.2018.11.004. PMID: 30595509Free PMC Article
Charar C, Gruenbaum Y
Clin Sci (Lond) 2017 Jan 1;131(2):105-111. doi: 10.1042/CS20160488. PMID: 27974395
Nolis T
J Hum Genet 2014 Jan;59(1):16-23. Epub 2013 Oct 24 doi: 10.1038/jhg.2013.107. PMID: 24152769

Diagnosis

Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
Corvillo F, Akinci B
Mol Immunol 2019 Aug;112:223-232. Epub 2019 Jun 6 doi: 10.1016/j.molimm.2019.05.011. PMID: 31177059
Hosokawa M, Shibata H, Hosokawa T, Irie J, Ito H, Hasegawa T
J Pediatr Endocrinol Metab 2019 May 27;32(5):537-541. doi: 10.1515/jpem-2018-0356. PMID: 31075084
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Garg A
Am J Med 2000 Feb;108(2):143-52. doi: 10.1016/s0002-9343(99)00414-3. PMID: 11126308

Therapy

Biancalana E, Ceccarini G, Magno S, Ortenzi V, Giannese D, Santini F, Solini A
Front Endocrinol (Lausanne) 2023;14:1172468. Epub 2023 May 19 doi: 10.3389/fendo.2023.1172468. PMID: 37274321Free PMC Article
Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
Hosokawa M, Shibata H, Hosokawa T, Irie J, Ito H, Hasegawa T
J Pediatr Endocrinol Metab 2019 May 27;32(5):537-541. doi: 10.1515/jpem-2018-0356. PMID: 31075084
Polyzos SA, Perakakis N, Mantzoros CS
Metabolism 2019 Jul;96:66-82. Epub 2019 May 6 doi: 10.1016/j.metabol.2019.05.001. PMID: 31071311
Walker PD
Curr Opin Nephrol Hypertens 2007 May;16(3):204-12. doi: 10.1097/MNH.0b013e3280bdc0f4. PMID: 17420663

Prognosis

Magno S, Ceccarini G, Corvillo F, Pelosini C, Gilio D, Paoli M, Fornaciari S, Pandolfo G, Sanchez-Iglesias S, Nozal P, Curcio M, Sessa MR, López-Trascasa M, Araújo-Vilar D, Santini F
J Clin Endocrinol Metab 2024 Feb 20;109(3):e932-e944. doi: 10.1210/clinem/dgad700. PMID: 38061004
Hosokawa M, Shibata H, Hosokawa T, Irie J, Ito H, Hasegawa T
J Pediatr Endocrinol Metab 2019 May 27;32(5):537-541. doi: 10.1515/jpem-2018-0356. PMID: 31075084
Ozgen Saydam B, Sonmez M, Simsir IY, Erturk MS, Kulaksizoglu M, Arkan T, Hekimsoy Z, Cavdar U, Akinci G, Demir T, Altay CT, Mihci E, Secil M, Akinci B
Endocr Res 2019 Feb-May;44(1-2):46-54. Epub 2018 Sep 5 doi: 10.1080/07435800.2018.1513029. PMID: 30182761
Akinci B, Koseoglu FD, Onay H, Yavuz S, Altay C, Simsir IY, Ozisik S, Demir L, Korkut M, Yilmaz N, Ozen S, Akinci G, Atik T, Calan M, Secil M, Comlekci A, Demir T
Metabolism 2015 Sep;64(9):1086-95. Epub 2015 Jun 10 doi: 10.1016/j.metabol.2015.06.004. PMID: 26139569
Misra A, Peethambaram A, Garg A
Medicine (Baltimore) 2004 Jan;83(1):18-34. doi: 10.1097/01.md.0000111061.69212.59. PMID: 14747765

Clinical prediction guides

Magno S, Ceccarini G, Corvillo F, Pelosini C, Gilio D, Paoli M, Fornaciari S, Pandolfo G, Sanchez-Iglesias S, Nozal P, Curcio M, Sessa MR, López-Trascasa M, Araújo-Vilar D, Santini F
J Clin Endocrinol Metab 2024 Feb 20;109(3):e932-e944. doi: 10.1210/clinem/dgad700. PMID: 38061004
Corvillo F, González-Sánchez L, López-Lera A, Arjona E, Ceccarini G, Santini F, Araújo-Vilar D, Brown RJ, Villarroya J, Villarroya F, Rodríguez de Córdoba S, Caballero T, Nozal P, López-Trascasa M
Int J Mol Sci 2021 Jun 21;22(12) doi: 10.3390/ijms22126608. PMID: 34205507Free PMC Article
Corvillo F, Okrój M, Nozal P, Melgosa M, Sánchez-Corral P, López-Trascasa M
Front Immunol 2019;10:886. Epub 2019 Apr 24 doi: 10.3389/fimmu.2019.00886. PMID: 31068950Free PMC Article
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Nolis T
J Hum Genet 2014 Jan;59(1):16-23. Epub 2013 Oct 24 doi: 10.1038/jhg.2013.107. PMID: 24152769

Recent systematic reviews

Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article

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