Hereditary Angioedema Types I and II

Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.

Also Known As:

Angioedema, Hereditary, Type I; Angioedema, Hereditary, Type II; Angioedema, Hereditary, Types I and II; C1 Esterase Inhibitor, Deficiency Of; Deficiency of C1 Esterase Inhibitor; Hereditary Angioedema Type 1; Hereditary Angioedema Type I; Hereditary Angioedema Type II

Networked: 35 relevant articles (2 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Angioedema
2.	Hereditary Angioedemas
3.	Wounds and Injuries (Trauma)
4.	Hereditary Angioedema Type III
5.	Capillary Leak Syndrome

Experts

1.	Aberer, W: 2 articles (12/2021 - 09/2012)
2.	Bouillet, L: 2 articles (12/2021 - 04/2013)
3.	Bygum, A: 2 articles (12/2021 - 01/2015)
4.	IOS Study Group: 2 articles (12/2021 - 01/2019)
5.	Bouillet, Laurence: 2 articles (01/2019 - 01/2012)
6.	Bygum, Anette: 2 articles (01/2019 - 08/2013)
7.	Longhurst, Hilary J: 2 articles (01/2019 - 11/2018)
8.	Maurer, Marcus: 2 articles (01/2019 - 11/2018)
9.	Zanichelli, Andrea: 2 articles (01/2019 - 11/2018)
10.	Craig, Timothy J: 2 articles (01/2016 - 03/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Angioedema Types I and II:

1.	Danazol (Azol)FDA LinkGeneric 03/01/1982 - "Because initial studies showed a functional deficiency of C1 esterase inhibitor and low C4 levels, he was treated with danazol, an attenuated androgen that has proven to be effective in the treatment of angioedema associated with C1 esterase inhibitor deficiency. "
2.	AndrogensIBA 03/01/1982 - "Because initial studies showed a functional deficiency of C1 esterase inhibitor and low C4 levels, he was treated with danazol, an attenuated androgen that has proven to be effective in the treatment of angioedema associated with C1 esterase inhibitor deficiency. "
3.	Complement System Proteins (Complement)IBA 10/01/1989 - "The diagnosis was confirmed by the deficiency of C1 esterase inhibitor, associated with a significant reduction of the other fraction of complement c3-c4 and also total haemolytic complement. " 03/01/1986 - "Hereditary angioedema (HAE) is a disease related to a complement disorder, namely a deficiency of C1 esterase inhibitor. " 05/01/2009 - "Hereditary angioedema (HAE), deficiency of C1 esterase inhibitor, poses a risk of airway compromise during trauma, including surgery, due to activation of the complement cascade. " 12/01/2022 - "Herein, a case-based approach is presented for discussing the major types of angioedema, including the following: hereditary angioedema types I and II and normal complement, acquired angioedema, angiotensin-converting enzyme-induced angioedema, and histaminergic and nonhistaminergic angioedema. "
4.	Progestins (Progestagens)IBA 04/01/2013 - "We conducted a French retrospective, multi-centre study of progestin contraception in women with non-allergic angioedema, including hereditary angioedema type I, II and III and idiopathic angioedema. "
5.	BradykininIBA 01/01/2016 - "The condition usually presents due to a deficiency of C1 esterase inhibitor (C1-INH) that leads to the overproduction of bradykinin, causing an abrupt increase in vascular permeability. " 01/01/2015 - "Hereditary angioedema types I and II are caused by a functional deficiency of C1 inhibitor (C1-INH), leading to overproduction of bradykinin. " 01/01/2012 - "He was correct in attributing the condition to increased vascular permeability, but he surmised the causal factors were neurogenic rather than humoral, according to current insights (excess of bradykinin due to external factors or hereditary deficiency of C1-esterase inhibitor). " 09/01/2023 - "Hereditary angioedema type 1 (HAE1) is an autosomal dominant disorder, characterized by quantitative and qualitative deficiency of C1 inhibitor, excessive production of bradykinin and causing recurrent angioedema in varying degrees of severity that affects quality of life and life itself. " 08/01/2013 - "Factor XII-independent activation of the bradykinin-forming cascade: Implications for the pathogenesis of hereditary angioedema types I and II."
6.	Complement C1 Inhibitor Protein (C1 Esterase Inhibitor)IBA 08/01/2021 - "Evidence for a dominant-negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I." 04/01/2019 - "Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1)." 03/01/2010 - "Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor (C1 INH) protein or function. " 07/22/2014 - "SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibitor (C1-INH) deficiency display a dominant-negative effect usually resulting in protein levels far below the expected 50%. "
7.	Factor XII (Hageman Factor)IBA 08/01/2013 - "Factor XII-independent activation of the bradykinin-forming cascade: Implications for the pathogenesis of hereditary angioedema types I and II." 05/02/1981 - "The cold activation, due to deficiency of C1 esterase inhibitor, was not suppressed by polybren in vitro (factor XII activation inhibitor) but was prevented by aprotinins (kallikrein inhibitors). " 06/01/2008 - "Bradykinin is the mediator of angioedema in hereditary angioedema types I and II (C1 inhibitor [INH] deficiency) and the newly described type III disorder some of which are caused bya mutation involving factor XII. Acquired C1 INH deficiency presents in a similar fashion to the hereditary disorder and is due either toC1 INH depletion by circulating immune complexes or to an IgG antibody directed to C1 INH. "
8.	icatibantIBA 12/01/2021 - "Variability of disease activity in patients with hereditary angioedema type 1/2: longitudinal data from the Icatibant Outcome Survey." 01/01/2019 - "Elderly versus younger patients with hereditary angioedema type I/II: patient characteristics and safety analysis from the Icatibant Outcome Survey." 01/01/2012 - "An evidence-based review of the potential role of icatibant in the treatment of acute attacks in hereditary angioedema type I and II."
9.	Proteins (Proteins, Gene)FDA Link 09/01/1998 - "Hereditary angio-oedema is an autosomal dominant condition resulting in a deficiency of C1 esterase inhibitor protein in serum. " 07/22/2014 - "SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibitor (C1-INH) deficiency display a dominant-negative effect usually resulting in protein levels far below the expected 50%. "
10.	Antigen-Antibody Complex (Immune Complex)IBA 06/13/1981 - "[Immune complex nephropathy and hereditary deficiency of C1 esterase inhibitor (author's transl)]." 06/01/2008 - "Bradykinin is the mediator of angioedema in hereditary angioedema types I and II (C1 inhibitor [INH] deficiency) and the newly described type III disorder some of which are caused bya mutation involving factor XII. Acquired C1 INH deficiency presents in a similar fashion to the hereditary disorder and is due either toC1 INH depletion by circulating immune complexes or to an IgG antibody directed to C1 INH. "

Therapies and Procedures

1.	Contraception (Birth Control) 04/01/2013 - "We conducted a French retrospective, multi-centre study of progestin contraception in women with non-allergic angioedema, including hereditary angioedema type I, II and III and idiopathic angioedema. "
2.	Hormone Replacement Therapy (Therapy, Hormone Replacement) 03/01/2003 - "Oral contraceptives or hormone replacement therapy can either induce or exacerbate symptoms of hereditary angioedema type I or type III, or idiopathic angioedema. " 03/01/2003 - "Oral contraceptives or hormone replacement therapy led to angioedema attacks in 46 women (20%), including 20 (63%) of the women with hereditary angioedema type I, 24 (62%) of those with hereditary angioedema type III, and 2 (4%) of those with idiopathic angioedema. " 03/01/2003 - "Of the 516 women, 228 (44%) had used oral contraceptives or hormone replacement therapy, including 103 (45%) with urticaria-related angioedema, 50 (22%) with idiopathic angioedema, 39 (17%) with hereditary angioedema type III, 32 (14%) with hereditary angioedema type I, and 4 (2%) with angioedema induced by angiotensin-converting enzyme inhibitors. "
3.	Transplantation 09/01/2012 - "Successful allogeneic cord blood transplantation in a patient with Evans syndrome leads to correction of hereditary angioedema type I as secondary effect."
4.	Oral Surgery (Maxillofacial Surgery) 01/01/2022 - "Oral Surgery Procedures in a Patient Affected by Hereditary Angioedema Type I."
5.	Operative Surgical Procedures 10/01/2014 - "Hereditary angioedema type I (HAE-C1-INH) is an inherited disorder characterized by repeated severe angioedema attacks mostly triggered by traumas, emotional stress, increased estrogen levels or surgical procedures, in particular, odontostomatological interventions. "