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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hereditary angioedema


Other Names for this Disease

  • Angioedema, hereditary
  • Deficiency of C1 esterase inhibitor
  • HAE
  • HANE
  • Hereditary angioedema type 1
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Symptoms

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What are the symptoms of hereditary angioedema?

Hereditary angioedema is characterized by recurrent episodes of severe swelling (angioedema). The most commonly involved areas of the body are the limbs, face, intestinal tract, and airway. While minor trauma or stress may trigger an attack, swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.[1]

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]

Last updated: 1/24/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angioedema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

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%
Abdominal pain -
Abnormality of the larynx -
Autoimmunity -
Autosomal dominant inheritance -
Diarrhea -
Erythema -
Intestinal edema -
Laryngeal edema -
Peripheral axonal neuropathy -
Pharyngeal edema -
Vomiting -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Hereditary angioedema. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/hereditary-angioedema. Accessed 1/24/2011.


Other Names for this Disease
  • Angioedema, hereditary
  • Deficiency of C1 esterase inhibitor
  • HAE
  • HANE
  • Hereditary angioedema type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.