Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. Untreated individuals may have an attack every 1 to 2 weeks. Most episodes last 3 to 4 days. The frequency and duration of attacks vary greatly among individuals with hereditary angioedema, even among those in the same family.[1]
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Edema | 90% |
| Urticaria | 90% |
| Abdominal pain | 7.5% |
| Ascites | 7.5% |
| Immunologic hypersensitivity | 7.5% |
| Intestinal obstruction | 7.5% |
| Abnormality of the larynx | - |
| Angioedema | - |
| Autoimmunity | - |
| Autosomal dominant inheritance | - |
| Diarrhea | - |
| Erythema | - |
| Intestinal edema | - |
| Laryngeal edema | - |
| Peripheral axonal neuropathy | - |
| Pharyngeal edema | - |
| Vomiting | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Orphanet, a database dedicated to information on rare diseases and orphan drugs, provides guidelines regarding emergency management of hereditary angioedema at the following link.
http://www.orpha.net/consor/cgi-bin/Disease_Emergency.php?lng=EN&stapage=FICHE_URGENCE_A1
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Hereditary Angioedema (HAE) Conference Friday, September 19, 2014 -
Saturday, September 20, 2014
Location:
San Diego,
CA
Description: Anticipated goals and use of results: 1) Organize and conduct a conference that is thematically focused on growing and extending knowledge in HAE; and which become progressively more ambitious over time, reflecting the anticipated advances in research. 2) Identify topics and speakers that will clarify the most promising avenues of investigation, organize the conference in a manner that will optimally support communication between all participants, communicate the resulting discussions to the broader scientific, patient, and pharmaceutical communities. 3) Provide a supportive and constructive forum for young investigators, including female and minority scientists, to present their work and interact with more senior investigators. 4) Increase interest and awareness of HAE research among the wider research community particularly among young investigators in order to recruit new investigators into the field. 5) Ensure equal representation and access of women and underrepresented minority participants.
Contact: Nancy Coulter,(301) 496-1886, ncoulter@niaid.nih.gov
Co-funding Institute(s): National Institute of Allergy and Infectious Diseases, Office of Rare Diseases Research
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Are there medications available to treat hereditary angioedema? See answer
