A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment
AbstractBackground Hereditary angioedema with normal C1-inhibitor (HAE-nC1-INH) is a rare genetic disease. The symptoms can resemble other forms of hereditary angioedema (HAE), but the specific laboratory values are inconspicuous. The knowledge about treatment strategies in HAE-nC1-INH remains insuf...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2024-12-01
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| Series: | Journal of Dermatological Treatment |
| Subjects: | |
| Online Access: | https://www.tandfonline.com/doi/10.1080/09546634.2023.2290362 |
| _version_ | 1797393003371823104 |
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| author | Robin Lochbaum Susanne Trainotti Thomas K. Hoffmann Jens Greve Janina Hahn |
| author_facet | Robin Lochbaum Susanne Trainotti Thomas K. Hoffmann Jens Greve Janina Hahn |
| author_sort | Robin Lochbaum |
| collection | DOAJ |
| description | AbstractBackground Hereditary angioedema with normal C1-inhibitor (HAE-nC1-INH) is a rare genetic disease. The symptoms can resemble other forms of hereditary angioedema (HAE), but the specific laboratory values are inconspicuous. The knowledge about treatment strategies in HAE-nC1-INH remains insufficient; most of the drugs are only licensed and approved for other types of HAE.Methods An analysis of all patients with HAE-nC1-INH was carried out in a certified angioedema treatment center in southern Germany. Only patients with a confirmed HAE-nC1-INH mutation were included. The impact of disease was monitored with validated questionnaires.Results Eighteen patients were included: two families with a factor XII mutation and seven families with a plasminogen mutation. All individuals received icatibant for on-demand therapy—efficient treatment response was reported. Three patients were severely affected, and prophylaxis was initiated with lanadelumab. According to the questionnaires, the clinical course and symptoms improved significantly under this prophylactic regime.Conclusion This is one of the first descriptions of the clinical outcomes as a response to prophylactic treatment with lanadelumab in HAE-nC1-INH patients with a known mutation. The therapeutic management of HAE-1 and HAE-2 should also be the basis of HAE-nC1-INH, including prophylaxis. |
| first_indexed | 2024-03-08T23:56:48Z |
| format | Article |
| id | doaj.art-752857e1055a48539a0ceb361b231f64 |
| institution | Directory Open Access Journal |
| issn | 0954-6634 1471-1753 |
| language | English |
| last_indexed | 2024-03-08T23:56:48Z |
| publishDate | 2024-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Journal of Dermatological Treatment |
| spelling | doaj.art-752857e1055a48539a0ceb361b231f642023-12-13T03:37:00ZengTaylor & Francis GroupJournal of Dermatological Treatment0954-66341471-17532024-12-0135110.1080/09546634.2023.2290362A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatmentRobin Lochbaum0Susanne Trainotti1Thomas K. Hoffmann2Jens Greve3Janina Hahn4Department of Otorhinolaryngology, Head and Neck Surgery, Ulm University Medical Center, Ulm, GermanyDepartment of Otorhinolaryngology, Klinikum rechts der Isar, Technical University of Munich, Munich, GermanyDepartment of Otorhinolaryngology, Head and Neck Surgery, Ulm University Medical Center, Ulm, GermanyDepartment of Otorhinolaryngology, Head and Neck Surgery, Ulm University Medical Center, Ulm, GermanyDepartment of Otorhinolaryngology, Head and Neck Surgery, Ulm University Medical Center, Ulm, GermanyAbstractBackground Hereditary angioedema with normal C1-inhibitor (HAE-nC1-INH) is a rare genetic disease. The symptoms can resemble other forms of hereditary angioedema (HAE), but the specific laboratory values are inconspicuous. The knowledge about treatment strategies in HAE-nC1-INH remains insufficient; most of the drugs are only licensed and approved for other types of HAE.Methods An analysis of all patients with HAE-nC1-INH was carried out in a certified angioedema treatment center in southern Germany. Only patients with a confirmed HAE-nC1-INH mutation were included. The impact of disease was monitored with validated questionnaires.Results Eighteen patients were included: two families with a factor XII mutation and seven families with a plasminogen mutation. All individuals received icatibant for on-demand therapy—efficient treatment response was reported. Three patients were severely affected, and prophylaxis was initiated with lanadelumab. According to the questionnaires, the clinical course and symptoms improved significantly under this prophylactic regime.Conclusion This is one of the first descriptions of the clinical outcomes as a response to prophylactic treatment with lanadelumab in HAE-nC1-INH patients with a known mutation. The therapeutic management of HAE-1 and HAE-2 should also be the basis of HAE-nC1-INH, including prophylaxis.https://www.tandfonline.com/doi/10.1080/09546634.2023.2290362Hereditary angioedemaHAE-nC1-INHC1-inhibitorprophylaxistreatmentmutation |
| spellingShingle | Robin Lochbaum Susanne Trainotti Thomas K. Hoffmann Jens Greve Janina Hahn A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment Journal of Dermatological Treatment Hereditary angioedema HAE-nC1-INH C1-inhibitor prophylaxis treatment mutation |
| title | A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment |
| title_full | A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment |
| title_fullStr | A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment |
| title_full_unstemmed | A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment |
| title_short | A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment |
| title_sort | clinical evaluation of patients with known mutations plasminogen and factor xii with a focus on prophylactic treatment |
| topic | Hereditary angioedema HAE-nC1-INH C1-inhibitor prophylaxis treatment mutation |
| url | https://www.tandfonline.com/doi/10.1080/09546634.2023.2290362 |
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