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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

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
Current and Prospective Targets of Pharmacologic Treatment of Hereditary Angioedema Types 1 and 2.
Fijen LM, Bork K, Cohn DM
Clin Rev Allergy Immunol 2021 Aug;61(1):66-76. Epub 2021 Jan 9 doi: 10.1007/s12016-021-08832-x. PMID: 33423210Free 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
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
Hereditary angioedema (HAE) in children and adolescents--a consensus on therapeutic strategies.
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

Management of pediatric hereditary angioedema types 1 and 2: A search for international consensus.
Norris M, Ashoor Z, Craig T
Allergy Asthma Proc 2022 Sep 1;43(5):388-396. doi: 10.2500/aap.2022.43.220052. PMID: 36065112
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
Current and Prospective Targets of Pharmacologic Treatment of Hereditary Angioedema Types 1 and 2.
Fijen LM, Bork K, Cohn DM
Clin Rev Allergy Immunol 2021 Aug;61(1):66-76. Epub 2021 Jan 9 doi: 10.1007/s12016-021-08832-x. PMID: 33423210Free PMC Article
Hereditary angioedema: an update on causes, manifestations and treatment.
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
An update on the diagnosis and management of hereditary angioedema with abnormal C1 inhibitor.
Davis-Lorton M
J Drugs Dermatol 2015 Feb;14(2):151-7. PMID: 25689810

Therapy

Management of pediatric hereditary angioedema types 1 and 2: A search for international consensus.
Norris M, Ashoor Z, Craig T
Allergy Asthma Proc 2022 Sep 1;43(5):388-396. doi: 10.2500/aap.2022.43.220052. PMID: 36065112
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
Current and Prospective Targets of Pharmacologic Treatment of Hereditary Angioedema Types 1 and 2.
Fijen LM, Bork K, Cohn DM
Clin Rev Allergy Immunol 2021 Aug;61(1):66-76. Epub 2021 Jan 9 doi: 10.1007/s12016-021-08832-x. PMID: 33423210Free PMC Article
Hereditary angioedema: an update on causes, manifestations and treatment.
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
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

Prognosis

The analysis of the effect of the COVID-19 pandemic on patients with hereditary angioedema type I and type II.
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
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
Management of hereditary angioedema type I and homozygous MTHFR mutation during pregnancy.
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
Patterns of C1-Inhibitor/Plasma Serine Protease Complexes in Healthy Humans and in Hereditary Angioedema Patients.
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
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

Clinical prediction guides

The analysis of the effect of the COVID-19 pandemic on patients with hereditary angioedema type I and type II.
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
Icatibant for the treatment of hereditary angioedema with C1-inhibitor deficiency in adolescents and in children aged over 2 years.
Farkas H, Kőhalmi KV
Expert Rev Clin Immunol 2018 Jun;14(6):447-460. Epub 2018 May 24 doi: 10.1080/1744666X.2018.1476851. PMID: 29757016
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
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
Human C1-esterase inhibitor concentrate (Berinert).
Keating GM
BioDrugs 2009;23(6):399-406. doi: 10.2165/11201100-000000000-00000. PMID: 19894781

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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