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

The influence of trigger factors on hereditary angioedema due to C1-inhibitor deficiency.
 

Author(s): Zsuzsanna Zotter, Dorottya Csuka, Erika Szabó, Ibolya Czaller, Zsuzsanna Nébenführer, György Temesszentandrási, George Fust, Lilian Varga, Henriette Farkas

Journal:

 

Hereditary angioedema (HAE) resulting from C1-inhibitor deficiency is characterized by attacks of subcutaneous and submucosal edema. Many factors have been presumed to induce edema. Our study analyzed these factors in a fairly large patient population.

Last Updated: 8 Apr 2014

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Pharmacokinetics of plasma-derived C1-esterase inhibitor after subcutaneous versus intravenous administration in subjects with mild or moderate hereditary angioedema: the PASSION study.
 

Author(s): Inmaculada Martinez-Saguer, Marco Cicardi, Chiara Suffritti, Eva Rusicke, Emel Aygören-Pürsün, Hildegard Stoll, Tanja Rossmanith, Annette Feussner, Uwe Kalina, Wolfhart Kreuz

Journal: Transfusion. 2014 Jun;54(6):1552-61.

 

Hereditary angioedema (HAE) is a rare disease caused by C1-esterase inhibitor (C1-INH) deficiency, characterized by periodic attacks of acute edema affecting subcutaneous (SC) tissues and mucous membranes. Human C1-INH concentrate given intravenously (IV) is effective and safe, but ...

Last Updated: 10 Jun 2014

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Ongoing contact activation in patients with hereditary angioedema.
 

Author(s): Joke Konings, Massimo Cugno, Chiara Suffritti, Hugo Ten Cate, Marco Cicardi, José W P Govers-Riemslag

Journal:

 

Hereditary angioedema (HAE) is predominantly caused by a deficiency in C1 esterase inhibitor (C1INH) (HAE-C1INH). C1INH inhibits activated factor XII (FXIIa), activated factor XI (FXIa), and kallikrein. In HAE-C1INH patients the thrombotic risk is not increased even though activation ...

Last Updated: 9 Sep 2013

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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:

[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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Hereditary angioedema type III (estrogen-dependent) report of three cases and literature review.
 

Author(s): Amanda Rodrigues Miranda, Ana Paula Fusel de Ue, Dominique Vilarinho Sabbag, Wellington de Jesus Furlani, Patrícia Karla de Souza, Osmar Rotta

Journal: An Bras Dermatol. ;88(4):578-84.

 

In this article, three cases of hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor) are reported. The HAE was initially described in women of the same family in association with high-leveled estrogenic conditions such as the use of oral contraceptives ...

Last Updated: 26 Sep 2013

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Recent advances in the management of hereditary angioedema.
 

Author(s): Stephen E Hemperly, Niti Sardana Agarwal, Ying-Yang Xu, Yu-Xiang Zhi, Timothy J Craig

Journal: J Am Osteopath Assoc. 2013 Jul;113(7):546-55.

 

Hereditary angioedema (HAE) is a rare genetic condition that manifests as painful and potentially life-threatening episodic attacks of cutaneous and submucosal swelling. It results from functional deficiency of C1 inhibitor (C1 INH), which is a regulator of the complement, fibrinolytic, ...

Last Updated: 11 Jul 2013

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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

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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Last Updated: 5 Aug 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: 12 Mar 2014

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