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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.
ORPHA:528623
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: -
A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)
Detailed information
Guidelines
- Emergency guidelines
- Français (2021, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Deutsch (2020) - AWMF
- Français (2021) - PNDS
Clinical Outcome Assessment (COA)
- Patient-Centered Outcome Measures (PCOMs)
- English (2023) - PROQOLIDTM
produced/endorsed by ERN(s) produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.