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IgG4-related retroperitoneal fibrosis

MedGen UID:
20554
Concept ID:
C0035357
Disease or Syndrome
Synonyms: Idiopathic retroperitoneal fibrosis; Ormond's disease; Retroperitoneal fibrosis
SNOMED CT: RPF - Retroperitoneal fibrosis (49120005); Retroperitoneal fibrosis (49120005); Ormond's disease (49120005); Sclerosing retroperitonitis (49120005)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0005200
Monarch Initiative: MONDO:0018848
Orphanet: ORPHA49041

Definition

A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIgG4-related retroperitoneal fibrosis
Follow this link to review classifications for IgG4-related retroperitoneal fibrosis in Orphanet.

Conditions with this feature

Multifocal fibrosclerosis
MedGen UID:
105414
Concept ID:
C0494949
Disease or Syndrome
H syndrome
MedGen UID:
400532
Concept ID:
C1864445
Disease or Syndrome
The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC described an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).

Professional guidelines

PubMed

Mbengue M, Goumri N, Niang A
Clin Nephrol 2021 Jun;95(6):292-302. doi: 10.5414/CN110492. PMID: 33860756
Umehara H, Okazaki K, Kawa S, Takahashi H, Goto H, Matsui S, Ishizaka N, Akamizu T, Sato Y, Kawano M; Research Program for Intractable Disease by the Ministry of Health, Labor and Welfare (MHLW) Japan.
Mod Rheumatol 2021 May;31(3):529-533. Epub 2021 Jan 28 doi: 10.1080/14397595.2020.1859710. PMID: 33274670
Löhr JM, Beuers U, Vujasinovic M, Alvaro D, Frøkjær JB, Buttgereit F, Capurso G, Culver EL, de-Madaria E, Della-Torre E, Detlefsen S, Dominguez-Muñoz E, Czubkowski P, Ewald N, Frulloni L, Gubergrits N, Duman DG, Hackert T, Iglesias-Garcia J, Kartalis N, Laghi A, Lammert F, Lindgren F, Okhlobystin A, Oracz G, Parniczky A, Mucelli RMP, Rebours V, Rosendahl J, Schleinitz N, Schneider A, van Bommel EF, Verbeke CS, Vullierme MP, Witt H; UEG guideline working group
United European Gastroenterol J 2020 Jul;8(6):637-666. Epub 2020 Jun 18 doi: 10.1177/2050640620934911. PMID: 32552502Free PMC Article

Recent clinical studies

Etiology

Angarola E, Valeo Chulvi M, Peuchot V, García Rivello H, Jauk F
Medicina (B Aires) 2022;82(1):91-98. PMID: 35037866
Wang K, Wang Z, Zeng Q, Zhu L, Gao J, Wang Z, Zhang S, Yang F, Shen D, Wang Y, Liu Y
PLoS One 2021;16(2):e0245601. Epub 2021 Feb 18 doi: 10.1371/journal.pone.0245601. PMID: 33600452Free PMC Article
Wallwork R, Wallace Z, Perugino C, Sharma A, Stone JH
Medicine (Baltimore) 2018 Oct;97(42):e12631. doi: 10.1097/MD.0000000000012631. PMID: 30334947Free PMC Article
Lian L, Wang C, Tian JL
Int J Rheum Dis 2016 Nov;19(11):1049-1055. Epub 2016 Apr 29 doi: 10.1111/1756-185X.12863. PMID: 27125330
Hara N, Kawaguchi M, Takeda K, Zen Y
World J Gastroenterol 2014 Nov 28;20(44):16550-8. doi: 10.3748/wjg.v20.i44.16550. PMID: 25469023Free PMC Article

Diagnosis

Angarola E, Valeo Chulvi M, Peuchot V, García Rivello H, Jauk F
Medicina (B Aires) 2022;82(1):91-98. PMID: 35037866
Drazilova S, Veseliny E, Lenartova PD, Drazilova D, Gazda J, Grgurevic I, Janicko M, Jarcuska P
Can J Gastroenterol Hepatol 2021;2021:1959832. Epub 2021 Dec 21 doi: 10.1155/2021/1959832. PMID: 34970512Free PMC Article
Wallwork R, Wallace Z, Perugino C, Sharma A, Stone JH
Medicine (Baltimore) 2018 Oct;97(42):e12631. doi: 10.1097/MD.0000000000012631. PMID: 30334947Free PMC Article
Kawano M, Yamada K
Semin Liver Dis 2016 Aug;36(3):283-90. Epub 2016 Jul 28 doi: 10.1055/s-0036-1584316. PMID: 27466797
Lian L, Wang C, Tian JL
Int J Rheum Dis 2016 Nov;19(11):1049-1055. Epub 2016 Apr 29 doi: 10.1111/1756-185X.12863. PMID: 27125330

Therapy

Wallwork R, Wallace Z, Perugino C, Sharma A, Stone JH
Medicine (Baltimore) 2018 Oct;97(42):e12631. doi: 10.1097/MD.0000000000012631. PMID: 30334947Free PMC Article
Kawano M, Yamada K
Semin Liver Dis 2016 Aug;36(3):283-90. Epub 2016 Jul 28 doi: 10.1055/s-0036-1584316. PMID: 27466797
Lian L, Wang C, Tian JL
Int J Rheum Dis 2016 Nov;19(11):1049-1055. Epub 2016 Apr 29 doi: 10.1111/1756-185X.12863. PMID: 27125330
Hara N, Kawaguchi M, Takeda K, Zen Y
World J Gastroenterol 2014 Nov 28;20(44):16550-8. doi: 10.3748/wjg.v20.i44.16550. PMID: 25469023Free PMC Article
Fujimori N, Ito T, Igarashi H, Oono T, Nakamura T, Niina Y, Hijioka M, Lee L, Uchida M, Takayanagi R
World J Gastroenterol 2013 Jan 7;19(1):35-41. doi: 10.3748/wjg.v19.i1.35. PMID: 23326160Free PMC Article

Prognosis

Drazilova S, Veseliny E, Lenartova PD, Drazilova D, Gazda J, Grgurevic I, Janicko M, Jarcuska P
Can J Gastroenterol Hepatol 2021;2021:1959832. Epub 2021 Dec 21 doi: 10.1155/2021/1959832. PMID: 34970512Free PMC Article
Wang K, Wang Z, Zeng Q, Zhu L, Gao J, Wang Z, Zhang S, Yang F, Shen D, Wang Y, Liu Y
PLoS One 2021;16(2):e0245601. Epub 2021 Feb 18 doi: 10.1371/journal.pone.0245601. PMID: 33600452Free PMC Article
Lian L, Wang C, Tian JL
Int J Rheum Dis 2016 Nov;19(11):1049-1055. Epub 2016 Apr 29 doi: 10.1111/1756-185X.12863. PMID: 27125330
Hara N, Kawaguchi M, Takeda K, Zen Y
World J Gastroenterol 2014 Nov 28;20(44):16550-8. doi: 10.3748/wjg.v20.i44.16550. PMID: 25469023Free PMC Article
Fujimori N, Ito T, Igarashi H, Oono T, Nakamura T, Niina Y, Hijioka M, Lee L, Uchida M, Takayanagi R
World J Gastroenterol 2013 Jan 7;19(1):35-41. doi: 10.3748/wjg.v19.i1.35. PMID: 23326160Free PMC Article

Clinical prediction guides

Miki M, Fujimori N, Oono T, Kawabe K, Ohno A, Matsumoto K, Teramatsu K, Tachibana Y, Ogawa Y
J Dig Dis 2019 Mar;20(3):152-158. doi: 10.1111/1751-2980.12708. PMID: 30701685
Lian L, Wang C, Tian JL
Int J Rheum Dis 2016 Nov;19(11):1049-1055. Epub 2016 Apr 29 doi: 10.1111/1756-185X.12863. PMID: 27125330
Hara N, Kawaguchi M, Takeda K, Zen Y
World J Gastroenterol 2014 Nov 28;20(44):16550-8. doi: 10.3748/wjg.v20.i44.16550. PMID: 25469023Free PMC Article
Soliotis F, Mavragani CP, Plastiras SC, Rontogianni D, Skopouli FN, Moutsopoulos HM
Clin Exp Rheumatol 2014 Sep-Oct;32(5):724-7. Epub 2014 Jul 28 PMID: 25068679
Chiba K, Kamisawa T, Tabata T, Hara S, Kuruma S, Fujiwara T, Kuwata G, Egashira H, Koizumi K, Koizumi S, Fujiwara J, Arakawa T, Momma K, Setoguchi K, Shinohara M
Intern Med 2013;52(14):1545-51. Epub 2013 Jul 15 doi: 10.2169/internalmedicine.52.0306. PMID: 23857085

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