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Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis(APLDC3)

MedGen UID:
462697
Concept ID:
C3151347
Disease or Syndrome
Synonyms: APLDC3; LIPODYSTROPHY, PARTIAL, ACQUIRED, ASSOCIATED WITH C3 NEPHRITIC FACTOR
 
Monarch Initiative: MONDO:0013488
OMIM®: 613913

Definition

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. [from OMIM]

Clinical features

From HPO
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Lipodystrophy
MedGen UID:
6111
Concept ID:
C0023787
Disease or Syndrome
Degenerative changes of the fat tissue.
Progressive loss of facial adipose tissue
MedGen UID:
332468
Concept ID:
C1837510
Finding
Loss of facial adipose tissue
MedGen UID:
325251
Concept ID:
C1837767
Finding
Loss of normal subcutaneous fat tissue in the face.
Loss of subcutaneous adipose tissue from upper limbs
MedGen UID:
870169
Concept ID:
C4024602
Finding
Mesangiocapillary glomerulonephritis
MedGen UID:
9033
Concept ID:
C0017662
Disease or Syndrome
A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Decreased circulating complement C3 concentration
MedGen UID:
332469
Concept ID:
C1837512
Finding
Concentration of the complement component C3 in the blood circulation below the lower limit of normal.

Professional guidelines

PubMed

Yu C, Li P, Dang X, Zhang X, Mao Y, Chen X
J Autoimmun 2022 Oct;132:102871. Epub 2022 Aug 20 doi: 10.1016/j.jaut.2022.102871. PMID: 35999111
Floege J, Rauen T, Tang SCW
Semin Immunopathol 2021 Oct;43(5):717-728. Epub 2021 Sep 8 doi: 10.1007/s00281-021-00888-3. PMID: 34495361Free PMC Article
Sykes EA, Wu V, Beyea MM, Simpson MTW, Beyea JA
Can Fam Physician 2020 Apr;66(4):251-257. PMID: 32273409Free PMC Article

Recent clinical studies

Etiology

Anders HJ, Kitching AR, Leung N, Romagnani P
Nat Rev Immunol 2023 Jul;23(7):453-471. Epub 2023 Jan 12 doi: 10.1038/s41577-022-00816-y. PMID: 36635359Free PMC Article
Lamba P, Nam KH, Contractor J, Kim A
Prim Care 2020 Dec;47(4):615-629. Epub 2020 Sep 25 doi: 10.1016/j.pop.2020.08.003. PMID: 33121632
Hunt EAK, Somers MJG
Pediatr Clin North Am 2019 Feb;66(1):59-72. doi: 10.1016/j.pcl.2018.08.005. PMID: 30454751
Floege J, Amann K
Lancet 2016 May 14;387(10032):2036-48. Epub 2016 Feb 25 doi: 10.1016/S0140-6736(16)00272-5. PMID: 26921911
Nasr SH, Radhakrishnan J, D'Agati VD
Kidney Int 2013 May;83(5):792-803. Epub 2013 Jan 9 doi: 10.1038/ki.2012.407. PMID: 23302723

Diagnosis

Keskinyan VS, Lattanza B, Reid-Adam J
Pediatr Rev 2023 Sep 1;44(9):498-512. doi: 10.1542/pir.2021-005259. PMID: 37653138
Duong MD, Reidy KJ
Pediatr Clin North Am 2022 Dec;69(6):1051-1078. Epub 2022 Oct 29 doi: 10.1016/j.pcl.2022.08.001. PMID: 36880922
Rovin BH, Adler SG, Barratt J, Bridoux F, Burdge KA, Chan TM, Cook HT, Fervenza FC, Gibson KL, Glassock RJ, Jayne DRW, Jha V, Liew A, Liu ZH, Mejía-Vilet JM, Nester CM, Radhakrishnan J, Rave EM, Reich HN, Ronco P, Sanders JF, Sethi S, Suzuki Y, Tang SCW, Tesar V, Vivarelli M, Wetzels JFM, Lytvyn L, Craig JC, Tunnicliffe DJ, Howell M, Tonelli MA, Cheung M, Earley A, Floege J
Kidney Int 2021 Oct;100(4):753-779. doi: 10.1016/j.kint.2021.05.015. PMID: 34556300
Balasubramanian R, Marks SD
Paediatr Int Child Health 2017 Nov;37(4):240-247. Epub 2017 Sep 11 doi: 10.1080/20469047.2017.1369642. PMID: 28891413
Nasr SH, Radhakrishnan J, D'Agati VD
Kidney Int 2013 May;83(5):792-803. Epub 2013 Jan 9 doi: 10.1038/ki.2012.407. PMID: 23302723

Therapy

Xu Y, Yang Q, Fu C, Han E, Gao Y
BMJ Open 2023 Jan 18;13(1):e064220. doi: 10.1136/bmjopen-2022-064220. PMID: 36657752Free PMC Article
Caravaca-Fontán F, Fernández-Juárez GM, Floege J, Goumenos D, Kronbichler A, Turkmen K, van Kooten C, Frangou E, Stevens KI, Segelmark M, Tesar V, Anders HJ, Bruchfeld A
Nephrol Dial Transplant 2022 May 25;37(6):1033-1042. doi: 10.1093/ndt/gfab316. PMID: 34748001
Satoskar AA, Parikh SV, Nadasdy T
Nat Rev Nephrol 2020 Jan;16(1):32-50. Epub 2019 Aug 9 doi: 10.1038/s41581-019-0178-8. PMID: 31399725
Thompson A, Carroll K, A Inker L, Floege J, Perkovic V, Boyer-Suavet S, W Major R, I Schimpf J, Barratt J, Cattran DC, S Gillespie B, Kausz A, W Mercer A, Reich HN, H Rovin B, West M, Nachman PH
Clin J Am Soc Nephrol 2019 Mar 7;14(3):469-481. Epub 2019 Jan 11 doi: 10.2215/CJN.08600718. PMID: 30635299Free PMC Article
Srivastava RN
Indian J Pediatr 1999 Mar-Apr;66(2):199-205. doi: 10.1007/BF02761208. PMID: 10798062

Prognosis

Willey CJ, Coppo R, Schaefer F, Mizerska-Wasiak M, Mathur M, Schultz MJ
Nephrol Dial Transplant 2023 Sep 29;38(10):2340-2349. doi: 10.1093/ndt/gfad082. PMID: 37156519Free PMC Article
Beckwith H, Lightstone L, McAdoo S
Semin Nephrol 2022 Mar;42(2):185-196. doi: 10.1016/j.semnephrol.2022.04.008. PMID: 35718365
Floege J, Amann K
Lancet 2016 May 14;387(10032):2036-48. Epub 2016 Feb 25 doi: 10.1016/S0140-6736(16)00272-5. PMID: 26921911
VanDeVoorde RG 3rd
Pediatr Rev 2015 Jan;36(1):3-12; quiz 13. doi: 10.1542/pir.36-1-3. PMID: 25554106
McGrogan A, Franssen CF, de Vries CS
Nephrol Dial Transplant 2011 Feb;26(2):414-30. Epub 2010 Nov 10 doi: 10.1093/ndt/gfq665. PMID: 21068142

Clinical prediction guides

Gleeson PJ, O'Shaughnessy MM, Barratt J
Nephrol Dial Transplant 2023 Oct 31;38(11):2464-2473. doi: 10.1093/ndt/gfad146. PMID: 37418237Free PMC Article
AlYousef A, AlSahow A, AlHelal B, Alqallaf A, Abdallah E, Abdellatif M, Nawar H, Elmahalawy R
BMC Nephrol 2020 May 18;21(1):186. doi: 10.1186/s12882-020-01836-3. PMID: 32423387Free PMC Article
McAdoo SP, Pusey CD
Clin J Am Soc Nephrol 2017 Jul 7;12(7):1162-1172. Epub 2017 May 17 doi: 10.2215/CJN.01380217. PMID: 28515156Free PMC Article
Almaani S, Meara A, Rovin BH
Clin J Am Soc Nephrol 2017 May 8;12(5):825-835. Epub 2016 Nov 7 doi: 10.2215/CJN.05780616. PMID: 27821390Free PMC Article
Bose B, Cattran D; Toronto Glomerulonephritis Registry
Clin J Am Soc Nephrol 2014 Mar;9(3):626-32. Epub 2013 Aug 29 doi: 10.2215/CJN.05810513. PMID: 23990165Free PMC Article

Recent systematic reviews

Hellmich B, Sanchez-Alamo B, Schirmer JH, Berti A, Blockmans D, Cid MC, Holle JU, Hollinger N, Karadag O, Kronbichler A, Little MA, Luqmani RA, Mahr A, Merkel PA, Mohammad AJ, Monti S, Mukhtyar CB, Musial J, Price-Kuehne F, Segelmark M, Teng YKO, Terrier B, Tomasson G, Vaglio A, Vassilopoulos D, Verhoeven P, Jayne D
Ann Rheum Dis 2024 Jan 2;83(1):30-47. doi: 10.1136/ard-2022-223764. PMID: 36927642
van Driel ML, De Sutter AI, Thorning S, Christiaens T
Cochrane Database Syst Rev 2021 Mar 17;3(3):CD004406. doi: 10.1002/14651858.CD004406.pub5. PMID: 33728634Free PMC Article
Tunnicliffe DJ, Palmer SC, Henderson L, Masson P, Craig JC, Tong A, Singh-Grewal D, Flanc RS, Roberts MA, Webster AC, Strippoli GF
Cochrane Database Syst Rev 2018 Jun 29;6(6):CD002922. doi: 10.1002/14651858.CD002922.pub4. PMID: 29957821Free PMC Article
Tunnicliffe DJ, Singh-Grewal D, Kim S, Craig JC, Tong A
Arthritis Care Res (Hoboken) 2015 Oct;67(10):1440-52. doi: 10.1002/acr.22591. PMID: 25778500
McGrogan A, Franssen CF, de Vries CS
Nephrol Dial Transplant 2011 Feb;26(2):414-30. Epub 2010 Nov 10 doi: 10.1093/ndt/gfq665. PMID: 21068142

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