Living with Hereditary angioneurotic edema
An inherited condition with repeated attacks of severe swelling of the skin and the linings of some organs.
Understanding Hereditary angioneurotic edema
Attacks often become more frequent after puberty. Swelling most often affects the face, hands, arms, legs, genitals, and buttocks. The gut can be affected, causing belly pain, nausea, vomiting, and diarrhea. Less often the upper airway is involved, which can be dangerous. Attacks usually go away on their own in 2 to 5 days. Triggers can include emotional stress, physical stress, and dental procedures.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but the summary describes these signs:
- Severe swelling of the skin
- Swelling of the face, hands, and legs
- Belly pain, nausea, and vomiting
- Diarrhea
- Swelling of the throat or tongue (less often)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, allergy and immune system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
US Hereditary Angioedema Association may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: US Hereditary Angioedema Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with US Hereditary Angioedema Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
HAE may be caused by changes in the SERPING1 (C1NH) gene or the F12 gene. In some cases the cause is not yet known. It is autosomal dominant, but not everyone with the gene change develops symptoms.
Also known as: angioedemas, hereditary; c1 esterase inhibitor deficiency; familial angioneurotic edema; familial angioneurotic oedema; hae; hae - hereditary angioedema
Patient organizations
- US Hereditary Angioedema AssociationHereditary angioneurotic edema · United States
- Allergy & Asthma Network Mothers of AsthmaticsHereditary angioneurotic edema · United States
- HAE InternationalHereditary angioneurotic edema · United States
- Jeffrey Modell FoundationHereditary angioneurotic edema · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary angioneurotic edema.
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