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

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: 29 Jun 2017

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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: 22 Mar 2017

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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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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: 12 Dec 2016

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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: 17 Jun 2016

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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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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: 13 Nov 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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