Hereditary angioedema

Common Name(s)

Hereditary angioedema, HAE

Hereditary angioedema (HAE) is a rare, debilitating, and potentially fatal genetic disorder that is characterized by episodes of swelling in various body parts including the hands, feet, face and airway. In addition, patients often have bouts of excruciating abdominal pain, nausea, and vomiting that is caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary angioedema" for support, advocacy or research.

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US Hereditary Angioedema Association

Helping HAE patients and their families to achieve lifelong health.

Last Updated: 5 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary angioedema" for support, advocacy or research.

Logo
US Hereditary Angioedema Association

Helping HAE patients and their families to achieve lifelong health.

http://www.haea.org

Last Updated: 5 Mar 2013

View Details

 

General Support Organizations

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General Resources

HAE Essentials - A Patient's Guide

Video series of HAE disease information for patients and family and caregivers

Updated 20 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hereditary angioedema" returned 175 free, full-text research articles on human participants. First 3 results:

Sustained response of recombinant human C1 esterase inhibitor for acute treatment of hereditary angioedema attacks.
 

Author(s): Jonathan A Bernstein, Anurag Relan, Joseph R Harper, Marc Riedl

Journal: Ann. Allergy Asthma Immunol.. 2017 Apr;118(4):452-455.

 

Symptoms of hereditary angioedema (HAE) attacks can recur soon after initial treatment; the durability of response for recombinant human C1 esterase inhibitor (rhC1INH) treatment is unknown.

Last Updated: 12 Mar 2017

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Screening for hereditary angioedema (HAE) at 13 emergency centers in Osaka, Japan: A prospective observational study.
 

Author(s): Tomoya Hirose, Futoshi Kimbara, Masahiro Shinozaki, Yasuaki Mizushima, Hidehiko Yamamoto, Masashi Kishi, Takeyuki Kiguchi, Shigeru Shiono, Mitsuhiro Noborio, Akihiro Fuke, Hiroshi Akimoto, Takaaki Kimura, Shinichiro Kaga, Takahiko Horiuchi, Takeshi Shimazu

Journal: Medicine (Baltimore). 2017 Feb;96(6):e6109.

 

Hereditary angioedema (HAE) with deficiency of C1 inhibitor (C1-INH) is an autosomal-dominant disease characterized by recurrent episodes of potentially life-threatening angioedema. The objective is to study the incidence of HAE among patients who visit the emergency department.This ...

Last Updated: 8 Feb 2017

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Comparing acquired angioedema with hereditary angioedema (types I/II): findings from the Icatibant Outcome Survey.
 

Author(s): H J Longhurst, A Zanichelli, T Caballero, L Bouillet, W Aberer, M Maurer, O Fain, V Fabien, I Andresen,

Journal: Clin. Exp. Immunol.. 2017 Apr;188(1):148-153.

 

Icatibant is used to treat acute hereditary angioedema with C1 inhibitor deficiency types I/II (C1-INH-HAE types I/II) and has shown promise in angioedema due to acquired C1 inhibitor deficiency (C1-INH-AAE). Data from the Icatibant Outcome Survey (IOS) were analysed to evaluate the ...

Last Updated: 9 Dec 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hereditary angioedema" returned 23 free, full-text review articles on human participants. First 3 results:

Efficacy of Different Medical Therapies for the Treatment of Acute Laryngeal Attacks of Hereditary Angioedema due to C1-esterase Inhibitor Deficiency.
 

Author(s): Konrad Bork, Jonathan A Bernstein, Thomas Machnig, Timothy J Craig

Journal: J Emerg Med. 2016 Apr;50(4):567-80.e1.

 

Hereditary angioedema (HAE) is a rare disease characterized by C1-esterase inhibitor (C1-INH) deficiency, resulting in periodic attacks of acute edema, which can be life-threatening if they occur in the upper airway. No head-to-head comparisons of different treatment options for acute ...

Last Updated: 28 Mar 2016

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Recombinant replacement therapy for hereditary angioedema due to C1 inhibitor deficiency.
 

Author(s): Dumitru Moldovan, Jonathan A Bernstein, Marco Cicardi

Journal: Immunotherapy. 2015 ;7(7):739-52.

 

Hereditary angioedema is a rare genetic condition transmitted as an autosomal dominant trait and characterized most commonly by the production of either inadequate or nonfunctioning C1 esterase inhibitor (C1-INH), a blood protein that regulates proteases in the complement, fibrinolytic ...

Last Updated: 19 Sep 2015

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Recombinant human C1 esterase inhibitor in the management of hereditary angioedema.
 

Author(s): Marc Riedl

Journal: Clin Drug Investig. 2015 Jul;35(7):407-17.

 

Hereditary angioedema (HAE), a rare autosomal dominant genetic disorder, is caused by a deficiency in functional C1 esterase inhibitor (C1-INH). This potentially life-threatening condition manifests as recurrent attacks of subcutaneous and submucosal swelling of the skin, gastrointestinal ...

Last Updated: 3 Jul 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety of Ruconest in 2-13 Year Old Hereditary Angioedema (HAE) Patients
 

Status: Recruiting

Condition Summary: Hereditary Angioedema

 

Last Updated: 14 Oct 2016

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Study of BCX7353 as a Treatment for Attacks of Hereditary Angioedema
 

Status: Recruiting

Condition Summary: Hereditary Angioedema (HAE)

 

Last Updated: 3 Aug 2017

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Study to Assess the Tolerability and Safety of Ecallantide in Children and Adolescents With Hereditary Angioedema
 

Status: Recruiting

Condition Summary: Hereditary Angioedema Types I and II

 

Last Updated: 3 Jan 2017

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