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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

Isolated angioedema: A review of classification and update on management.
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

Variability of disease activity in patients with hereditary angioedema type 1/2: longitudinal data from the Icatibant Outcome Survey.
Maurer M, Caballero T, Aberer W, Zanichelli A, Bouillet L, Bygum A, Grumach AS, Botha J, Andresen I, Longhurst HJ; IOS Study Group
J Eur Acad Dermatol Venereol 2021 Dec;35(12):2421-2430. Epub 2021 Oct 5 doi: 10.1111/jdv.17654. PMID: 34506666
Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks: A Randomized Clinical Trial.
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
Splenic marginal zone lymphomas in acquired C1-inhibitor deficiency: clinical and molecular characterization.
Sbattella M, Zanichelli A, Ghia P, Gattei V, Suffritti C, Teatini T, Cicardi M, Castelli R
Med Oncol 2018 Aug 2;35(9):118. doi: 10.1007/s12032-018-1183-7. PMID: 30073422
The Icatibant Outcome Survey: treatment of laryngeal angioedema attacks.
Longhurst HJ, Aberer W, Bouillet L, Caballero T, Maurer M, Fabien V, Zanichelli A; IOS Study Group
Eur J Emerg Med 2016 Jun;23(3):224-7. doi: 10.1097/MEJ.0000000000000292. PMID: 27116379Free PMC Article
Efficacy assessments in randomized controlled studies of acute therapy for hereditary angioedema.
Caballero T
J Clin Immunol 2012 Dec;32(6):1204-12. Epub 2012 Jul 15 doi: 10.1007/s10875-012-9734-8. PMID: 22797816

Diagnosis

Isolated angioedema: A review of classification and update on management.
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
Case 8-2022: A 54-Year-Old Woman with Episodes of Swelling.
Banerji A, Phadke NA, Gottumukkala R, Sharma R, Murali MR
N Engl J Med 2022 Mar 17;386(11):1071-1079. doi: 10.1056/NEJMcpc2027087. PMID: 35294816
Hereditary Angioedema Type 1 with Recurrent Dizziness.
Ando T, Torii R, Kazuta T, Endo T, Araki A, Horiuchi T, Terao S, Katsuno M
Intern Med 2019 Jul 1;58(13):1961-1963. Epub 2019 Mar 28 doi: 10.2169/internalmedicine.2015-18. PMID: 30918175Free PMC Article
Hereditary angioedema: the plasma contact system out of control.
De Maat S, Hofman ZLM, Maas C
J Thromb Haemost 2018 Sep;16(9):1674-1685. Epub 2018 Jul 17 doi: 10.1111/jth.14209. PMID: 29920929
Hereditary angioedema (HAE): a cause for recurrent abdominal pain.
Soni P, Kumar V, Alliu S, Shetty V
BMJ Case Rep 2016 Nov 14;2016 doi: 10.1136/bcr-2016-217196. PMID: 27873761Free PMC Article

Therapy

Isolated angioedema: A review of classification and update on management.
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
Hereditary Angioedema Type 1 with Recurrent Dizziness.
Ando T, Torii R, Kazuta T, Endo T, Araki A, Horiuchi T, Terao S, Katsuno M
Intern Med 2019 Jul 1;58(13):1961-1963. Epub 2019 Mar 28 doi: 10.2169/internalmedicine.2015-18. PMID: 30918175Free PMC Article
Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks: A Randomized Clinical Trial.
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
Pharmacological Management of Hereditary Angioedema with C1-Inhibitor Deficiency in Pediatric Patients.
Farkas H
Paediatr Drugs 2018 Apr;20(2):135-151. doi: 10.1007/s40272-017-0273-x. PMID: 29214395
Prophylaxis in hereditary angioedema (HAE) with C1 inhibitor deficiency.
Greve J, Strassen U, Gorczyza M, Dominas N, Frahm UM, Mühlberg H, Wiednig M, Zampeli V, Magerl M
J Dtsch Dermatol Ges 2016 Mar;14(3):266-75. doi: 10.1111/ddg.12856. PMID: 26972189

Prognosis

COVID-19 and hereditary angioedema: Incidence, outcomes, and mechanistic implications.
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
Variability of disease activity in patients with hereditary angioedema type 1/2: longitudinal data from the Icatibant Outcome Survey.
Maurer M, Caballero T, Aberer W, Zanichelli A, Bouillet L, Bygum A, Grumach AS, Botha J, Andresen I, Longhurst HJ; IOS Study Group
J Eur Acad Dermatol Venereol 2021 Dec;35(12):2421-2430. Epub 2021 Oct 5 doi: 10.1111/jdv.17654. PMID: 34506666
Bacteriuria increases the risk of edematous attacks in hereditary angioedema with C1-inhibitor deficiency.
Zotter Z, Veszeli N, Kőhalmi KV, Varga L, Imreh É, Kovács G, Nallbani M, Farkas H
Allergy 2016 Dec;71(12):1791-1793. Epub 2016 Sep 15 doi: 10.1111/all.13034. PMID: 27548887
Death due to obstruction of the upper airways caused by edema of the laryngeal mucosa in the course of hereditary angioedema.
Arkuszewski P, Meissner E, Szram S
Forensic Sci Int 2015 Sep;254:e22-4. Epub 2015 Jul 17 doi: 10.1016/j.forsciint.2015.07.025. PMID: 26228930
A case of hereditary angioedema involving recurrent abdominal attacks.
Kasamatsu Y, Yoshinoya K, Kasamatsu Y, Yamamoto T, Horiuchi T, Kadoya M
Intern Med 2011;50(23):2911-4. Epub 2011 Dec 1 doi: 10.2169/internalmedicine.50.6224. PMID: 22129507

Clinical prediction guides

Sustained response of recombinant human C1 esterase inhibitor for acute treatment of hereditary angioedema attacks.
Bernstein JA, Relan A, Harper JR, Riedl M
Ann Allergy Asthma Immunol 2017 Apr;118(4):452-455. Epub 2017 Mar 9 doi: 10.1016/j.anai.2017.01.029. PMID: 28284978
The Icatibant Outcome Survey: treatment of laryngeal angioedema attacks.
Longhurst HJ, Aberer W, Bouillet L, Caballero T, Maurer M, Fabien V, Zanichelli A; IOS Study Group
Eur J Emerg Med 2016 Jun;23(3):224-7. doi: 10.1097/MEJ.0000000000000292. PMID: 27116379Free PMC Article
Overview of hereditary angioedema caused by C1-inhibitor deficiency: assessment and clinical management.
Bork K, Davis-Lorton M
Eur Ann Allergy Clin Immunol 2013 Feb;45(1):7-16. PMID: 23678554
Efficacy assessments in randomized controlled studies of acute therapy for hereditary angioedema.
Caballero T
J Clin Immunol 2012 Dec;32(6):1204-12. Epub 2012 Jul 15 doi: 10.1007/s10875-012-9734-8. PMID: 22797816
Successful long-term treatment with the bradykinin B2 receptor antagonist icatibant in a patient with hereditary angioedema.
Greve J, Hoffmann TK, Schuler P, Lang S, Chaker A, Bas M
Int J Dermatol 2011 Oct;50(10):1294-5. doi: 10.1111/j.1365-4632.2011.05051.x. PMID: 21950301

Recent systematic reviews

Treatment with C1-esterase inhibitor concentrate in type I or II hereditary angioedema: a systematic literature review.
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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