DISEASE SCANNER
Global Incurable Diseases Tracker
Hereditary Angioedema (HAE)
An autosomal dominant disorder causing recurrent episodes of severe swelling (angioedema) affecting skin, gastrointestinal tract, and airway. Caused by C1 inhibitor deficiency (HAE types I/II) or factor XII mutation (HAE type III).
150.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Good with prophylaxis. Laryngeal attacks can be fatal without treatment. Attacks preventable with C1 inhibitor replacement. Normal life expectancy with modern therapy.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
C1 inhibitor concentrate, ecallantide, icatibant for acute attacks. Prophylactic C1 inhibitor, lanadelumab, or berotralstat. Self-administration training. Excellent prognosis with modern treatment. Avoid ACE inhibitors.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.