6533b7d3fe1ef96bd1260154
RESEARCH PRODUCT
Hereditary angioedema: an update on causes, manifestations and treatment.
Konrad BorkHilary Longhurstsubject
medicine.medical_specialtyBradykinin03 medical and health sciences0302 clinical medicineimmune system diseasesmedicineHumanscardiovascular diseases030212 general & internal medicineskin and connective tissue diseasesHereditary Angioedema Types I and IIbusiness.industryGenetic disorderfood and beveragesGeneral Medicinemedicine.diseaseDermatologyC1 esterase030228 respiratory systemHereditary angioedemaFactor XIIDisease ProgressionQuality of LifeKallikreinsbusinessPeptidesComplement C1 Inhibitor Proteindescription
Hereditary angioedema is a rare genetic disorder caused by deficiency of C1 esterase inhibitor (C1-INH) and characterized by recurrent episodes of severe swelling that affect the limbs, face, intestinal tract and airway. Since laryngeal oedema can be life-threatening as a result of asphyxiation, correct diagnosis and management of hereditary angioedema is vital. Hereditary angioedema attacks are mediated by bradykinin, the production of which is regulated by C1-INH. Hereditary angioedema therapy relies on treatment of acute attacks, and short- and long-term prophylaxis. Acute treatment options include C1-INH concentrate, icatibant and ecallantide. Self-administration of treatment is recommended and is associated with increased quality of life of patients with hereditary angioedema. Advances in diagnosis and management have improved the outcomes and quality of life of patients with hereditary angioedema.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2019-07-02 | British journal of hospital medicine (London, England : 2005) |