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.

Logo
US Hereditary Angioedema Association

Helping HAE patients and their families to achieve lifelong health.

Last Updated: 5 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

HAE Essentials - A Patient's Guide

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

Updated 20 Nov 2012

Go To URL
 
 
Top

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

Hereditary angioedema: Assessing the hypothesis for underlying autonomic dysfunction.
 

Author(s): Maddalena A Wu, Francesco Casella, Francesca Perego, Chiara Suffritti, Nada Afifi Afifi, Eleonora Tobaldini, Andrea Zanichelli, Chiara Cogliati, Nicola Montano, Marco Cicardi

Journal:

 

Attacks of Hereditary Angioedema due to C1-inhibitor deficiency (C1-INH-HAE)are often triggered by stressful events/hormonal changes.

Last Updated: 31 Dec 1969

Go To URL
Preventing Hereditary Angioedema Attacks in Children Using Cinryze®: Interim Efficacy and Safety Phase 3 Findings.
 

Author(s): Emel Aygören-Pürsün, Daniel Soteres, Dumitru Moldovan, Jim Christensen, Arthur Van Leerberghe, James Hao, Jennifer Schranz, Kraig W Jacobson, Inmaculada Martinez-Saguer

Journal: Int. Arch. Allergy Immunol.. 2017 ;173(2):114-119.

 

Hereditary angioedema (HAE) is a rare genetic disease causing unpredictable and potentially life-threatening subcutaneous and submucosal edematous attacks. Cinryze® (Shire ViroPharma Inc., Lexington, MA, USA), a nanofiltered C1 inhibitor (C1-INH), is approved in Europe for the treatment, ...

Last Updated: 31 Dec 1969

Go To URL
Prevention of Hereditary Angioedema Attacks with a Subcutaneous C1 Inhibitor.
 

Author(s): Hilary Longhurst, Marco Cicardi, Timothy Craig, Konrad Bork, Clive Grattan, James Baker, Huamin H Li, Avner Reshef, James Bonner, Jonathan A Bernstein, John Anderson, William R Lumry, Henriette Farkas, Constance H Katelaris, Gordon L Sussman, Joshua Jacobs, Marc Riedl, Michael E Manning, Jacques Hebert, Paul K Keith, Shmuel Kivity, Sergio Neri, Donald S Levy, Maria L Baeza, Robert Nathan, Lawrence B Schwartz, Teresa Caballero, William Yang, Ioana Crisan, María D Hernandez, Iftikhar Hussain, Michael Tarzi, Bruce Ritchie, Pavlina Králíčková, Mar Guilarte, Syed M Rehman, Aleena Banerji, Richard G Gower, Debra Bensen-Kennedy, Jonathan Edelman, Henrike Feuersenger, John-Philip Lawo, Thomas Machnig, Dipti Pawaskar, Ingo Pragst, Bruce L Zuraw,

Journal: N. Engl. J. Med.. 2017 03;376(12):1131-1140.

 

Hereditary angioedema is a disabling, potentially fatal condition caused by deficiency (type I) or dysfunction (type II) of the C1 inhibitor protein. In a phase 2 trial, the use of CSL830, a nanofiltered C1 inhibitor preparation that is suitable for subcutaneous injection, resulted ...

Last Updated: 31 Dec 1969

Go To URL

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 25 free, full-text review articles on human participants. First 3 results:

Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency.
 

Author(s): Michael M Frank, Bruce Zuraw, Aleena Banerji, Jonathan A Bernstein, Timothy Craig, Paula Busse, Sandra Christiansen, Marc Davis-Lorton, H Henry Li, William R Lumry, Marc Riedl,

Journal: Pediatrics. 2016 Nov;138(5):.

 

Hereditary angioedema (HAE) is a potentially life-threatening inherited disease characterized by attacks of skin swelling, severe abdominal pain, and upper airway swelling. Attacks typically begin in childhood, but the appropriate diagnosis is often missed. Attacks do not respond ...

Last Updated: 31 Dec 1969

Go To URL
International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency.
 

Author(s): H Farkas, I Martinez-Saguer, K Bork, T Bowen, T Craig, M Frank, A E Germenis, A S Grumach, A Luczay, L Varga, A Zanichelli,

Journal: Allergy. 2017 Feb;72(2):300-313.

 

The consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric patients. We intended to produce consensus recommendations for the diagnosis ...

Last Updated: 31 Dec 1969

Go To URL
Managing the female patient with hereditary angioedema.
 

Author(s): Aleena Banerji, Marc Riedl

Journal: Womens Health (Lond). 2016 Jun;12(3):351-61.

 

Hereditary angioedema (HAE) is a rare disorder resulting from decreased functional levels of C1-inhibitor (C1-INH), which manifests as periodic episodes of localized edema which can be extremely painful, debilitating and even fatal if the swelling affects the larynx. HAE can complicate ...

Last Updated: 31 Dec 1969

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of BCX7353 as a Treatment for Attacks of Hereditary Angioedema
 

Status: Recruiting

Condition Summary: Hereditary Angioedema (HAE)

 

Last Updated: 13 Dec 2017

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

Status: Recruiting

Condition Summary: Hereditary Angioedema

 

Last Updated: 14 Oct 2016

Go to URL
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

Go to URL