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 158 free, full-text research articles on human participants. First 3 results:

Management of Pregnancy and Delivery in Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency.
 

Author(s): T González-Quevedo, J I Larco, C Marcos, M Guilarte, M L Baeza, S Cimbollek, M C López-Serrano, M Piñero-Saavedra, M Rubio, T Caballero

Journal: J Investig Allergol Clin Immunol. 2016 ;26(3):161-7.

 

There is little information on pregnancy and delivery in patients with hereditary angioedema due to C1 inhibitor deficiency (C1INH-HAE). The aim of this study was to describe the effect of pregnancy and deliveries on symptoms of C1INH-HAE and review the need for and safety of treatments ...

Last Updated: 22 Jun 2016

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Genetic Analysis as a Practical Tool for Diagnosis of Hereditary Angioedema With Normal C1 Inhibitor: A Case Report.
 

Author(s): A S Moreno, L S M Maia, P B Palhas, M M Dias, V F Muglia, E C Castelli, K Bork, L K Arruda

Journal: J Investig Allergol Clin Immunol. 2016 ;26(1):57-9.

 

Last Updated: 25 Mar 2016

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Icatibant Exposure During Pregnancy in a Patient With Hereditary Angioedema.
 

Author(s): A Zanichelli, M Mansi, G Periti

Journal: J Investig Allergol Clin Immunol. 2015 ;25(6):447-9.

 

Last Updated: 27 Jan 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:

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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Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group.
 

Author(s): M Cicardi, W Aberer, A Banerji, M Bas, J A Bernstein, K Bork, T Caballero, H Farkas, A Grumach, A P Kaplan, M A Riedl, M Triggiani, A Zanichelli, B Zuraw,

Journal: Allergy. 2014 May;69(5):602-16.

 

Angioedema is defined as localized and self-limiting edema of the subcutaneous and submucosal tissue, due to a temporary increase in vascular permeability caused by the release of vasoactive mediator(s). When angioedema recurs without significant wheals, the patient should be diagnosed ...

Last Updated: 8 Apr 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 23 Sep 2014

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

Status: Recruiting

Condition Summary: Hereditary Angioedema

 

Last Updated: 5 Nov 2015

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Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema
 

Status: Recruiting

Condition Summary: Hereditary Angioedema (HAE)

 

Last Updated: 19 Aug 2016

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