ORPHA:528663
Acquired angioedema with C1Inh deficiency
Also called Acquired angioneurotic edema with C1 inhibitor deficiency, Acquired angioneurotic edema with C1Inh deficiency
- Body system
- Immunological diseases
- Inheritance pattern
- Not applicable
- Typical age of onset
- Not documented in Orphadata
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
About this disease
A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.
Definition from Orphanet.
Learn more
Source: Orphanet (Orphadata), ORPHA:528663. Data release 2026-06-23. www.orphadata.com — CC BY 4.0.