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Hereditary Angioedema Types I and II

MedGen UID:
439305
Concept ID:
C2717905
Disease or Syndrome
Synonyms: Angioedema, Hereditary, Types I and II; C1 Esterase Inhibitor, Deficiency Of; Deficiency of C1 Esterase Inhibitor; Hereditary Angioedema Type 1

Definition

Autosomal dominant inherited disorders characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites. In type I hereditary angioedema, the plasma levels of C1 inhibitor are decreased. In type II hereditary angioedema, the C1 inhibitor is dysfunctional and its plasma levels may be normal or elevated. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary Angioedema Types I and II

Professional guidelines

PubMed

Kesh S, Bernstein JA
Ann Allergy Asthma Immunol 2022 Dec;129(6):692-702. Epub 2022 Aug 19 doi: 10.1016/j.anai.2022.08.003. PMID: 35988876

Recent clinical studies

Etiology

Veronez CL, Christiansen SC, Smith TD, Riedl MA, Zuraw BL
Allergy Asthma Proc 2021 Nov 1;42(6):506-514. doi: 10.2500/aap.2021.42.210083. PMID: 34871158Free PMC Article
Banerji A, Riedl MA, Bernstein JA, Cicardi M, Longhurst HJ, Zuraw BL, Busse PJ, Anderson J, Magerl M, Martinez-Saguer I, Davis-Lorton M, Zanichelli A, Li HH, Craig T, Jacobs J, Johnston DT, Shapiro R, Yang WH, Lumry WR, Manning ME, Schwartz LB, Shennak M, Soteres D, Zaragoza-Urdaz RH, Gierer S, Smith AM, Tachdjian R, Wedner HJ, Hebert J, Rehman SM, Staubach P, Schranz J, Baptista J, Nothaft W, Maurer M; HELP Investigators
JAMA 2018 Nov 27;320(20):2108-2121. doi: 10.1001/jama.2018.16773. PMID: 30480729Free PMC Article
Czaller I, Csuka D, Zotter Z, Veszeli N, Takács E, Imreh É, Varga L, Farkas H
Ann Allergy Asthma Immunol 2016 Aug;117(2):175-9. Epub 2016 Jun 28 doi: 10.1016/j.anai.2016.06.005. PMID: 27364943
Csuka D, Munthe-Fog L, Skjoedt MO, Kocsis A, Zotter Z, Gál P, Varga L, Farkas H, Füst G, Garred P
Mol Immunol 2013 Jul;54(3-4):271-7. Epub 2013 Jan 12 doi: 10.1016/j.molimm.2012.12.015. PMID: 23318225
Wahn V, Aberer W, Eberl W, Faßhauer M, Kühne T, Kurnik K, Magerl M, Meyer-Olson D, Martinez-Saguer I, Späth P, Staubach-Renz P, Kreuz W
Eur J Pediatr 2012 Sep;171(9):1339-48. Epub 2012 Apr 29 doi: 10.1007/s00431-012-1726-4. PMID: 22543566Free PMC Article

Diagnosis

Kesh S, Bernstein JA
Ann Allergy Asthma Immunol 2022 Dec;129(6):692-702. Epub 2022 Aug 19 doi: 10.1016/j.anai.2022.08.003. PMID: 35988876
Longhurst HJ, Bork K
Br J Hosp Med (Lond) 2019 Jul 2;80(7):391-398. doi: 10.12968/hmed.2019.80.7.391. PMID: 31283393
Czaller I, Csuka D, Zotter Z, Veszeli N, Takács E, Imreh É, Varga L, Farkas H
Ann Allergy Asthma Immunol 2016 Aug;117(2):175-9. Epub 2016 Jun 28 doi: 10.1016/j.anai.2016.06.005. PMID: 27364943
Rubinstein E, Stolz LE, Sheffer AL, Stevens C, Bousvaros A
BMC Gastroenterol 2014 Apr 9;14:71. doi: 10.1186/1471-230X-14-71. PMID: 24712435Free PMC Article
Zuraw BL, Bernstein JA, Lang DM, Craig T, Dreyfus D, Hsieh F, Khan D, Sheikh J, Weldon D, Bernstein DI, Blessing-Moore J, Cox L, Nicklas RA, Oppenheimer J, Portnoy JM, Randolph CR, Schuller DE, Spector SL, Tilles SA, Wallace D; American Academy of Allergy, Asthma and Immunology; American College of Allergy, Asthma and Immunology
J Allergy Clin Immunol 2013 Jun;131(6):1491-3. doi: 10.1016/j.jaci.2013.03.034. PMID: 23726531

Therapy

Kesh S, Bernstein JA
Ann Allergy Asthma Immunol 2022 Dec;129(6):692-702. Epub 2022 Aug 19 doi: 10.1016/j.anai.2022.08.003. PMID: 35988876
Banerji A, Riedl MA, Bernstein JA, Cicardi M, Longhurst HJ, Zuraw BL, Busse PJ, Anderson J, Magerl M, Martinez-Saguer I, Davis-Lorton M, Zanichelli A, Li HH, Craig T, Jacobs J, Johnston DT, Shapiro R, Yang WH, Lumry WR, Manning ME, Schwartz LB, Shennak M, Soteres D, Zaragoza-Urdaz RH, Gierer S, Smith AM, Tachdjian R, Wedner HJ, Hebert J, Rehman SM, Staubach P, Schranz J, Baptista J, Nothaft W, Maurer M; HELP Investigators
JAMA 2018 Nov 27;320(20):2108-2121. doi: 10.1001/jama.2018.16773. PMID: 30480729Free PMC Article
Czaller I, Csuka D, Zotter Z, Veszeli N, Takács E, Imreh É, Varga L, Farkas H
Ann Allergy Asthma Immunol 2016 Aug;117(2):175-9. Epub 2016 Jun 28 doi: 10.1016/j.anai.2016.06.005. PMID: 27364943
Rubinstein E, Stolz LE, Sheffer AL, Stevens C, Bousvaros A
BMC Gastroenterol 2014 Apr 9;14:71. doi: 10.1186/1471-230X-14-71. PMID: 24712435Free PMC Article
Wahn V, Aberer W, Eberl W, Faßhauer M, Kühne T, Kurnik K, Magerl M, Meyer-Olson D, Martinez-Saguer I, Späth P, Staubach-Renz P, Kreuz W
Eur J Pediatr 2012 Sep;171(9):1339-48. Epub 2012 Apr 29 doi: 10.1007/s00431-012-1726-4. PMID: 22543566Free PMC Article

Prognosis

Szilágyi D, Horváth HR, Andrási N, Kempler MS, Balla Z, Farkas H
Sci Rep 2023 Nov 22;13(1):20446. doi: 10.1038/s41598-023-47307-1. PMID: 37993569Free PMC Article
Veronez CL, Christiansen SC, Smith TD, Riedl MA, Zuraw BL
Allergy Asthma Proc 2021 Nov 1;42(6):506-514. doi: 10.2500/aap.2021.42.210083. PMID: 34871158Free PMC Article
Batlle AR, do Carmo APP, Galao N, Grumach AS
Allergol Immunopathol (Madr) 2021;49(4):1-3. Epub 2021 Jul 1 doi: 10.15586/aei.v49i4.57. PMID: 34224212
Kajdácsi E, Jandrasics Z, Veszeli N, Makó V, Koncz A, Gulyás D, Köhalmi KV, Temesszentandrási G, Cervenak L, Gál P, Dobó J, de Maat S, Maas C, Farkas H, Varga L
Front Immunol 2020;11:794. Epub 2020 May 5 doi: 10.3389/fimmu.2020.00794. PMID: 32431708Free PMC Article
Bork K, Davis-Lorton M
Eur Ann Allergy Clin Immunol 2013 Feb;45(1):7-16. PMID: 23678554

Clinical prediction guides

Rubinstein E, Stolz LE, Sheffer AL, Stevens C, Bousvaros A
BMC Gastroenterol 2014 Apr 9;14:71. doi: 10.1186/1471-230X-14-71. PMID: 24712435Free PMC Article
Bouillet L, Launay D, Fain O, Boccon-Gibod I, Laurent J, Martin L, Montauban V, Finck K, Bouée S, Gompel A, Kanny G; French National Reference Center for Hereditary Angioedema (CREAK)
Ann Allergy Asthma Immunol 2013 Oct;111(4):290-4. Epub 2013 Aug 6 doi: 10.1016/j.anai.2013.07.012. PMID: 24054366
Bork K, Davis-Lorton M
Eur Ann Allergy Clin Immunol 2013 Feb;45(1):7-16. PMID: 23678554
Csuka D, Munthe-Fog L, Skjoedt MO, Kocsis A, Zotter Z, Gál P, Varga L, Farkas H, Füst G, Garred P
Mol Immunol 2013 Jul;54(3-4):271-7. Epub 2013 Jan 12 doi: 10.1016/j.molimm.2012.12.015. PMID: 23318225
Keating GM
BioDrugs 2009;23(6):399-406. doi: 10.2165/11201100-000000000-00000. PMID: 19894781

Recent systematic reviews

Bork K, Steffensen I, Machnig T
Allergy Asthma Proc 2013 Jul-Aug;34(4):312-327. Epub 2013 May 22 doi: 10.2500/aap.2013.34.3677. PMID: 23710659

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