Case report: Recurrent angioedema: Diagnosing the rare and the frequent
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 the...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-12-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2022.1048480/full |
| _version_ | 1797987409435033600 |
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| author | Thomas Buttgereit Thomas Buttgereit Lauré M. Fijen Lauré M. Fijen Carolina Vera Carolina Vera Karl-Christian Bergmann Karl-Christian Bergmann Marcus Maurer Marcus Maurer Markus Magerl Markus Magerl |
| author_facet | Thomas Buttgereit Thomas Buttgereit Lauré M. Fijen Lauré M. Fijen Carolina Vera Carolina Vera Karl-Christian Bergmann Karl-Christian Bergmann Marcus Maurer Marcus Maurer Markus Magerl Markus Magerl |
| author_sort | Thomas Buttgereit |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T07:47:06Z |
| format | Article |
| id | doaj.art-54b0eab98afc498dbe08935f9624c88b |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-04-11T07:47:06Z |
| publishDate | 2022-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-54b0eab98afc498dbe08935f9624c88b2022-12-22T04:36:14ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2022-12-01910.3389/fmed.2022.10484801048480Case report: Recurrent angioedema: Diagnosing the rare and the frequentThomas Buttgereit0Thomas Buttgereit1Lauré M. Fijen2Lauré M. Fijen3Carolina Vera4Carolina Vera5Karl-Christian Bergmann6Karl-Christian Bergmann7Marcus Maurer8Marcus Maurer9Markus Magerl10Markus Magerl11Institute of Allergology, Charité—Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, GermanyFraunhofer Institute for Translational Medicine and Pharmacology ITMP, Allergology and Immunology, Berlin, GermanyInstitute of Allergology, Charité—Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, GermanyDepartment of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers (UMC), University of Amsterdam, Amsterdam, NetherlandsInstitute of Allergology, Charité—Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, GermanyFraunhofer Institute for Translational Medicine and Pharmacology ITMP, Allergology and Immunology, Berlin, GermanyInstitute of Allergology, Charité—Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, GermanyFraunhofer Institute for Translational Medicine and Pharmacology ITMP, Allergology and Immunology, Berlin, GermanyInstitute of Allergology, Charité—Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, GermanyFraunhofer Institute for Translational Medicine and Pharmacology ITMP, Allergology and Immunology, Berlin, GermanyInstitute of Allergology, Charité—Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, GermanyFraunhofer Institute for Translational Medicine and Pharmacology ITMP, Allergology and Immunology, Berlin, GermanyHereditary 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.https://www.frontiersin.org/articles/10.3389/fmed.2022.1048480/fullangioedemarecurrentmast cellomalizumabnormal C1INHHAE |
| spellingShingle | Thomas Buttgereit Thomas Buttgereit Lauré M. Fijen Lauré M. Fijen Carolina Vera Carolina Vera Karl-Christian Bergmann Karl-Christian Bergmann Marcus Maurer Marcus Maurer Markus Magerl Markus Magerl Case report: Recurrent angioedema: Diagnosing the rare and the frequent Frontiers in Medicine angioedema recurrent mast cell omalizumab normal C1INH HAE |
| title | Case report: Recurrent angioedema: Diagnosing the rare and the frequent |
| title_full | Case report: Recurrent angioedema: Diagnosing the rare and the frequent |
| title_fullStr | Case report: Recurrent angioedema: Diagnosing the rare and the frequent |
| title_full_unstemmed | Case report: Recurrent angioedema: Diagnosing the rare and the frequent |
| title_short | Case report: Recurrent angioedema: Diagnosing the rare and the frequent |
| title_sort | case report recurrent angioedema diagnosing the rare and the frequent |
| topic | angioedema recurrent mast cell omalizumab normal C1INH HAE |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2022.1048480/full |
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