ArticleFrontiers in medicine2022
Case report: Recurrent angioedema: Diagnosing the rare and the frequent.
Article in Frontiers in medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Eosinophilic inflammation in hereditary angioedema: a single-center real-world retrospective chart review study.Frontiers in immunology · 2026Article
- Status quo and future developments in the diagnosis and treatment of hereditary angioedema.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2025Review
- Global frequency, diagnosis, and treatment of hereditary angioedema with normal C1 inhibitor.The journal of allergy and clinical immunology. Global · 2025Article
- Real-world outcomes of patients with hereditary angioedema with normal C1-inhibitor function and patients with idiopathic angioedema of unknown etiology in Canada.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2024Article
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Authors and funding
6 authors.
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Abstract
Hereditary angiodema with normal C1 inhibitor and unknown mutation (HAE-nC1INH-UNK), an exceedingly rare subtype of HAE, appears to be often diagnosed in patients who do not have this condition, but have mast cell-mediated angioedema. Here, we report two patients diagnosed with HAE-nC1INH-UNK by their physicians, who referred them to our center for treatment continuation with costly kallikrein-kinin-system targeted therapies. We describe how we established the correct diagnosis of recurrent mast cell-mediated angioedema after thorough investigation of both patients and initiated effective treatment with omalizumab. Also, we present and discuss the consensus criteria for diagnosing the very rare condition HAE-nC1INH in light of recent research and based on our own clinical experience. In conclusion, HAE-nC1INH-UNK should only be considered after more common differential diagnoses, i.e., mast cell-mediated angioedema, have thoroughly been investigated and ruled out. This approach reduces both the patients' disease burden and healthcare costs and contributes to meaningful research.
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