Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene
Abstract Background Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction...
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| Format: | Article |
| Language: | English |
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BMC
2020-02-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-020-1334-8 |
| _version_ | 1818159680208240640 |
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| author | Konrad Bork Karin Wulff Guenther Witzke Thomas Machnig Jochen Hardt |
| author_facet | Konrad Bork Karin Wulff Guenther Witzke Thomas Machnig Jochen Hardt |
| author_sort | Konrad Bork |
| collection | DOAJ |
| description | Abstract Background Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. Aim of this observational, retrospective study is to report about the efficacy of various treatments for acute attacks and long-term prophylaxis. Results The study included 111 patients with HAE-PLG. Thirteen patients were treated with icatibant for 201 acute swelling attacks. The mean duration of the treated attacks (mean 4.3 h; standard deviation [SD] 2.6 h) was significantly shorter than that of the previous 149 untreated attacks (mean 44.7 h; SD 28.6 h, p < 0.0001). Twelve patients were treated with plasma-derived C1-INH for 74 acute swelling attacks. The duration of the treated attacks (mean 31.5 h; SD 18.6 h) was significantly shorter than that of the previous 129 untreated in the same patients (mean 48.2 h; SD 32.5 h, p < 0.0001). Corticosteroids alone showed good response in 61/268 attacks (8 patients), low response in 82/268 attacks (7 patients), and no response in 125/268 attacks (26 patients). Corticosteroids combined with antihistamines showed good response in 13/309 attacks (4 patients), low response in 150/309 attacks (7 patients), and no response in 146/309 attacks (17 patients). Antihistamines alone were ineffective in all 37 attacks of 5 patients. In 2 patients with imminent asphyxiation due to tongue swelling and partial obstruction of the upper airways fresh frozen plasma was used without clinical response. The mean reduction in attack frequency was 46.3% under progestins (6 patients), 93.9% under tranexamic acid (3 patients) and 83.3% under danazol (3 patients). Conclusions For patients with HAE-PLG various treatment options are available, which completely or at least partially reduce attack duration or attack frequency. |
| first_indexed | 2024-12-11T15:49:50Z |
| format | Article |
| id | doaj.art-78003f8c78684689aca71e67ded4e00c |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-11T15:49:50Z |
| publishDate | 2020-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-78003f8c78684689aca71e67ded4e00c2022-12-22T00:59:35ZengBMCOrphanet Journal of Rare Diseases1750-11722020-02-0115111010.1186/s13023-020-1334-8Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen geneKonrad Bork0Karin Wulff1Guenther Witzke2Thomas Machnig3Jochen Hardt4Department of Dermatology, Johannes Gutenberg UniversityUniversity Medicine, Ernst Moritz Arndt UniversityDepartment of Dermatology, Johannes Gutenberg UniversityCSL Behring GmbHDepartment of Medical Psychology and Medical Sociology, Johannes Gutenberg UniversityAbstract Background Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. Aim of this observational, retrospective study is to report about the efficacy of various treatments for acute attacks and long-term prophylaxis. Results The study included 111 patients with HAE-PLG. Thirteen patients were treated with icatibant for 201 acute swelling attacks. The mean duration of the treated attacks (mean 4.3 h; standard deviation [SD] 2.6 h) was significantly shorter than that of the previous 149 untreated attacks (mean 44.7 h; SD 28.6 h, p < 0.0001). Twelve patients were treated with plasma-derived C1-INH for 74 acute swelling attacks. The duration of the treated attacks (mean 31.5 h; SD 18.6 h) was significantly shorter than that of the previous 129 untreated in the same patients (mean 48.2 h; SD 32.5 h, p < 0.0001). Corticosteroids alone showed good response in 61/268 attacks (8 patients), low response in 82/268 attacks (7 patients), and no response in 125/268 attacks (26 patients). Corticosteroids combined with antihistamines showed good response in 13/309 attacks (4 patients), low response in 150/309 attacks (7 patients), and no response in 146/309 attacks (17 patients). Antihistamines alone were ineffective in all 37 attacks of 5 patients. In 2 patients with imminent asphyxiation due to tongue swelling and partial obstruction of the upper airways fresh frozen plasma was used without clinical response. The mean reduction in attack frequency was 46.3% under progestins (6 patients), 93.9% under tranexamic acid (3 patients) and 83.3% under danazol (3 patients). Conclusions For patients with HAE-PLG various treatment options are available, which completely or at least partially reduce attack duration or attack frequency.http://link.springer.com/article/10.1186/s13023-020-1334-8Hereditary angioedemaPlasminogenGeneticsHereditary angioedema with normal C1 inhibitorIcatibantPlasma-derived C1-INH treatment |
| spellingShingle | Konrad Bork Karin Wulff Guenther Witzke Thomas Machnig Jochen Hardt Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene Orphanet Journal of Rare Diseases Hereditary angioedema Plasminogen Genetics Hereditary angioedema with normal C1 inhibitor Icatibant Plasma-derived C1-INH treatment |
| title | Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene |
| title_full | Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene |
| title_fullStr | Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene |
| title_full_unstemmed | Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene |
| title_short | Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene |
| title_sort | treatment of patients with hereditary angioedema with the c 988a g p lys330glu variant in the plasminogen gene |
| topic | Hereditary angioedema Plasminogen Genetics Hereditary angioedema with normal C1 inhibitor Icatibant Plasma-derived C1-INH treatment |
| url | http://link.springer.com/article/10.1186/s13023-020-1334-8 |
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