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

Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III.
 

Author(s): Jenny Björkqvist, Steven de Maat, Urs Lewandrowski, Antonio Di Gennaro, Chris Oschatz, Kai Schönig, Markus M Nöthen, Christian Drouet, Hal Braley, Marc W Nolte, Albert Sickmann, Con Panousis, Coen Maas, Thomas Renné

Journal: J. Clin. Invest.. 2015 Aug;125(8):3132-46.

 

Hereditary angioedema type III (HAEIII) is a rare inherited swelling disorder that is associated with point mutations in the gene encoding the plasma protease factor XII (FXII). Here, we demonstrate that HAEIII-associated mutant FXII, derived either from HAEIII patients or recombinantly ...

Last Updated: 4 Aug 2015

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Development and content validity testing of a patient-reported outcomes questionnaire for the assessment of hereditary angioedema in observational studies.
 

Author(s): Nicola Bonner, Linda Abetz-Webb, Lydie Renault, Teresa Caballero, Hilary Longhurst, Marcus Maurer, Sandra Christiansen, Bruce Zuraw,

Journal:

 

Hereditary Angioedema (HAE), a rare genetic disease, manifests as intermittent, painful attacks of angioedema. Attacks vary in frequency and severity and include skin, abdominal and life-threatening laryngeal swellings. This study aimed to develop a patient reported outcome (PRO) ...

Last Updated: 1 Jul 2015

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Current state of hereditary angioedema management: a patient survey.
 

Author(s): Aleena Banerji, Paula Busse, Sandra C Christiansen, Henry Li, William Lumry, Mark Davis-Lorton, Jonathan A Bernstein, Michael Frank, Anthony Castaldo, Janet F Long, Bruce L Zuraw, Marc Riedl

Journal: Allergy Asthma Proc. ;36(3):213-7.

 

Hereditary angioedema (HAE) is a chronic disease with a high burden of disease that is poorly understood and often misdiagnosed. Availability of treatments, including C1 esterase inhibitor (C1INH) replacement, ecallantide, and icatibant, marks a significant advance for HAE patients. ...

Last Updated: 15 May 2015

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

Pasteurized and nanofiltered, plasma-derived C1 esterase inhibitor concentrate for the treatment of hereditary angioedema.
 

Author(s): Konrad Bork

Journal: Immunotherapy. 2014 ;6(5):533-51.

 

Hereditary angioedema (HAE) is a relatively rare autosomal dominant disorder that is typically characterized by recurrent episodes of edema in various body locations. It is most commonly caused by an inherited deficiency of functionally active C1 esterase inhibitor (C1-INH). Replacement ...

Last Updated: 6 Jun 2014

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Pediatric hereditary angioedema.
 

Author(s): Andrew J MacGinnitie

Journal: Pediatr Allergy Immunol. 2014 Aug;25(5):420-7.

 

Hereditary angioedema (HAE) is a lifelong illness characterized by recurrent swelling of the skin, intestinal tract, and, ominously, the upper airway. It is caused by inadequate activity of the protein C1-inhibitor, with dysfunction in the kallikrein/bradykinin pathway underlying ...

Last Updated: 30 Aug 2014

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[Algorithm for diagnosis and treatment of hereditary angioedema as a tool for management].
 

Author(s): María Luisa Baeza, Teresa Caballero Molina, Carlos Crespo Diz, González-Quevedo, Mar Guilarte Clavero, Dolores Hernández Fernández de Rojas, Teófilo Lobera Labairu, Carmen Marcos Bravo, Andrés Navarro Ruiz, A Navarro Ruiz, José Luis Poveda Andrés, J L Poveda Andrés, María Antonia Cebollero, A Cebollero de Torre

Journal: Farm Hosp. ;37(6):521-9.

 

Hereditary angioedema is a disease with low prevalence and high heterogeneity with regards to the severity of the clinical picture, which makes the diagnosis difficult and requires the need for early start of specific treatment in order to prevent complications.

Last Updated: 22 Nov 2013

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Symptoms, Diagnosis, and Treatment

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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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Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema
 

Status: Recruiting

Condition Summary: Hereditary Angioedema; HAE

 

Last Updated: 28 Jan 2016

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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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