Article ; Online: Case report
Frontiers in Medicine, Vol
Recurrent angioedema: Diagnosing the rare and the frequent
2022 Volume 9
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 ...
| 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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| Keywords | angioedema ; recurrent ; mast cell ; omalizumab ; normal C1INH ; HAE ; Medicine (General) ; R5-920 |
| Subject code | 610 |
| Language | English |
| Publishing date | 2022-12-01T00:00:00Z |
| Publisher | Frontiers Media S.A. |
| Document type | Article ; Online |
| Database | BASE - Bielefeld Academic Search Engine (life sciences selection) |
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