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Loss of subcutaneous adipose tissue from upper limbs

MedGen UID:
870169
Concept ID:
C4024602
Finding
Synonym: Loss of fat tissue below the skin from upper limbs
 
HPO: HP:0009056

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of subcutaneous adipose tissue from upper limbs

Conditions with this feature

Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis
MedGen UID:
462697
Concept ID:
C3151347
Disease or Syndrome
Acquired partial lipodystrophy (APLD) 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. A large group of patients (83%) with acquired partial lipodystrophy have low serum levels of complement component C3 due to the presence of C3 nephritic factor, an IgG antibody that causes continuous activation of the alternative complement pathway and consumption of serum C3. About 22% of patients with this acquired complement defect develop membranoproliferative glomerulonephritis. Some individuals may also show an increased risk of infection (Misra et al., 2004). Acquired partial lipodystrophy 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) (summary by Misra et al., 2004). See 608709 for a subtype of APLD not associated with low complement C3 or renal disease.
Lipodystrophy, partial, acquired, susceptibility to
MedGen UID:
854363
Concept ID:
C3887501
Finding
An inherited susceptibility or predisposition to developing acquired partial lipodystrophy.

Recent clinical studies

Etiology

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
Tao M, Liu J, Chen X, Wang Q, He M, Chen W, Wang C, Zhang L
BMC Endocr Disord 2023 Sep 25;23(1):204. doi: 10.1186/s12902-023-01447-7. PMID: 37749567Free PMC Article
Hung YT, Cheng CY, Chen CB, Huang YL
Aesthet Surg J 2022 Sep 14;42(10):1119-1126. doi: 10.1093/asj/sjac035. PMID: 35170732
Di Renzo L, Cinelli G, Romano L, Zomparelli S, Lou De Santis G, Nocerino P, Bigioni G, Arsini L, Cenname G, Pujia A, Chiricolo G, De Lorenzo A
Nutrients 2021 Jan 25;13(2) doi: 10.3390/nu13020358. PMID: 33504026Free PMC Article
Hoevenaren IA, Wesselius TS, Meulstee JW, Vreeken RD, Maal TJ, Ulrich DJ
J Plast Reconstr Aesthet Surg 2017 Apr;70(4):495-500. Epub 2017 Jan 8 doi: 10.1016/j.bjps.2016.12.003. PMID: 28215619

Diagnosis

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
Causeret A, Lapègue F, Bruneau B, Dreano T, Ropars M, Guillin R
J Ultrasound Med 2019 Sep;38(9):2457-2467. Epub 2019 Jan 28 doi: 10.1002/jum.14944. PMID: 30690764
Tashani OA, Astita R, Sharp D, Johnson MI
Eur J Pain 2017 Aug;21(7):1186-1196. Epub 2017 Mar 6 doi: 10.1002/ejp.1019. PMID: 28263427
Kostek MA, Pescatello LS, Seip RL, Angelopoulos TJ, Clarkson PM, Gordon PM, Moyna NM, Visich PS, Zoeller RF, Thompson PD, Hoffman EP, Price TB
Med Sci Sports Exerc 2007 Jul;39(7):1177-85. doi: 10.1249/mss.0b0138058a5cb. PMID: 17596787
Posner MA
Instr Course Lect 2000;49:305-17. PMID: 10829185

Therapy

Hurwitz D, Smith D
Aesthetic Plast Surg 2012 Feb;36(1):62-71. Epub 2011 Jul 13 doi: 10.1007/s00266-011-9783-z. PMID: 21751063
Brightman L, Weiss E, Chapas AM, Karen J, Hale E, Bernstein L, Geronemus RG
Lasers Surg Med 2009 Dec;41(10):791-8. doi: 10.1002/lsm.20872. PMID: 20014259
Pierce GL, Beske SD, Lawson BR, Southall KL, Benay FJ, Donato AJ, Seals DR
Hypertension 2008 Jul;52(1):72-9. Epub 2008 May 26 doi: 10.1161/HYPERTENSIONAHA.108.111427. PMID: 18504322Free PMC Article
Gjedsted J, Gormsen LC, Nielsen S, Schmitz O, Djurhuus CB, Keiding S, Ørskov H, Tønnesen E, Møller N
Acta Physiol (Oxf) 2007 Nov;191(3):205-16. Epub 2007 Sep 3 doi: 10.1111/j.1748-1716.2007.01740.x. PMID: 17784905
Posner MA
Instr Course Lect 2000;49:305-17. PMID: 10829185

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
Patni N, Li X, Adams-Huet B, Vasandani C, Gomez-Diaz RA, Garg A
J Clin Endocrinol Metab 2019 Apr 1;104(4):1099-1108. doi: 10.1210/jc.2018-01922. PMID: 30418556Free PMC Article
Simpson F, Doig GS; Early PN Trial Investigators Group
JPEN J Parenter Enteral Nutr 2015 Mar;39(3):313-21. Epub 2013 Dec 13 doi: 10.1177/0148607113515526. PMID: 24335005
Pereira AZ, Marchini JS, Carneiro G, Arasaki CH, Zanella MT
Obes Surg 2012 Apr;22(4):597-601. doi: 10.1007/s11695-011-0538-3. PMID: 22065342
Posner MA
Instr Course Lect 2000;49:305-17. PMID: 10829185

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
Di Renzo L, Cinelli G, Romano L, Zomparelli S, Lou De Santis G, Nocerino P, Bigioni G, Arsini L, Cenname G, Pujia A, Chiricolo G, De Lorenzo A
Nutrients 2021 Jan 25;13(2) doi: 10.3390/nu13020358. PMID: 33504026Free PMC Article
Patni N, Li X, Adams-Huet B, Vasandani C, Gomez-Diaz RA, Garg A
J Clin Endocrinol Metab 2019 Apr 1;104(4):1099-1108. doi: 10.1210/jc.2018-01922. PMID: 30418556Free PMC Article
Strickland LR, Guo F, Lok K, Garvey WT
Diabetes Care 2013 Aug;36(8):2247-53. Epub 2013 Feb 19 doi: 10.2337/dc12-1529. PMID: 23423695Free PMC Article
Sakamoto T, Oku T, Takigawa M
Eur J Dermatol 1998 Mar;8(2):116-7. PMID: 9649714

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