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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary Angioedema Types I and II

Pathological Conditions, Signs and Symptoms
- Clinical finding
  - Finding by Site or System
    - Integumentary system finding
      - Angioedema
        Hereditary angioneurotic edema
        Hereditary 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

See all (1)

Recent clinical studies

Therapy

Oral Sebetralstat for On-Demand Treatment of Hereditary Angioedema Attacks.

Riedl MA, Farkas H, Aygören-Pürsün E, Psarros F, Soteres DF, Staevska M, Cancian M, Hagin D, Honda D, Melamed I, Savic S, Stobiecki M, Busse PJ, Dias de Castro E, Agmon-Levin N, Gower R, Kessel A, Kurowski M, Lleonart R, Grivcheva Panovska V, Wedner HJ, Audhya PK, Hao J, Iverson M, Smith MD, Yea CM, Lumry WR, Zanichelli A, Bernstein JA, Maurer M, Cohn DM; KONFIDENT Investigators
N Engl J Med 2024 Jul 4;391(1):32-43. Epub 2024 May 31 doi: 10.1056/NEJMoa2314192. PMID: 38819658

New Therapies for Type 1 and Type 2 Hereditary Angioedema.

Ameratunga R, Longhurst HJ
N Engl J Med 2024 Jul 4;391(1):79-81. Epub 2024 May 31 doi: 10.1056/NEJMe2405299. PMID: 38819650

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: 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: 30480729 Free PMC Article

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Prognosis

Hereditary Angioedema Type 1 and 2 in Finland: Incidence, Prevalence, and Preceding Diagnoses.

Sandberg A, Lassenius M, Vihervaara V, Toppila I, Huilaja L
Acta Derm Venereol 2024 May 6;104:adv24176. doi: 10.2340/actadv.v104.24176. PMID: 38708992 Free PMC Article

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: 37993569 Free 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: 34871158 Free 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

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

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Clinical prediction guides

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

Clinical Pattern and Acute and Long-term Management of Hereditary Angioedema Due to C1-Esterase Inhibitor Deficiency.

Gómez-Traseira C, Pérez-Fernández E, López-Serrano MC, García-Ara MC, Pedrosa M, López-Trascasa M, Caballero T
J Investig Allergol Clin Immunol 2015;25(5):358-64. PMID: 26727765

Abdominal attacks and treatment in hereditary angioedema with C1-inhibitor deficiency.

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: 24712435 Free 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

Human C1-esterase inhibitor concentrate (Berinert).

Keating GM
BioDrugs 2009;23(6):399-406. doi: 10.2165/11201100-000000000-00000. PMID: 19894781

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