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Hereditary angioedema with C1Inh deficiency

Disease definition

A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.


Classification level: Disorder
  • Synonym(s):
    • HAE with C1 inhibitor deficiency
    • HAE with C1Inh deficiency
    • Hereditary angioneurotic edema with C1 inhibitor deficiency
    • Hereditary angioneurotic edema with C1Inh deficiency
  • Prevalence: -
  • Inheritance: Not applicable 
  • Age of onset: -
  • ICD-10: D84.1
  • OMIM: -
  • UMLS: C4552294
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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