Screening for type II hereditary angioedema-the "poor man's c1-inhibitor function"
© 2023 The Author(s)..
Background: Hereditary angioedema (HAE) is a rare genetic disease. Patients with type II HAE have normal or elevated C1-inhibitor (C1-INH) levels but C1-INH protein is dysfunctional. C1-INH function requires careful sample handling and technical expertise and may account for the lack of diagnosed patients with type II HAE in resource-limited countries.
Objective: We sought to assess the diagnostic performance of elevated C1-INH levels in diagnosing type II HAE.
Methods: All patients with confirmed type II HAE in Hong Kong and India were analyzed. Diagnosis was confirmed by persistent low C1-INH function and/or pathogenic SERPING1 gene mutations. Their C1-INH levels were compared with those of matched controls.
Results: A total of 31 (14 Chinese, 17 Indian) patients with type II HAE and 31 matched controls were analyzed. Overall, 77.4% (24/31) of patients with type II HAE had elevated C1-INH levels compared with 38.7% (12 of 31) of controls (odds ratio, 2.00; 95% CI, 1.34-2.98; P = .017). C1-INH levels in patients with type II HAE were significantly higher than in controls (52.2 ± 20.0 mg/dL vs 29.1 ±3.6 mg/dL; P < .001). Findings were consistent when C1-INH values in the Chinese and Indian subgroups were analyzed separately. Receiver-operating characteristic curve demonstrated excellent performance for elevated C1-INH levels to diagnose patients with type II HAE with an area under the curve of 0.953 (95% CI, 0.941-0.992; P < .001). Positive and negative predictive values of both a low C4 and an elevated C1-INH level for patients with type II HAE were 100% and 82.9%, respectively.
Conclusions: Low C4 and elevated C1-INH levels may be considered as a screening tool for type II HAE, especially in countries where C1-INH function testing is not readily available.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 2023 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:3 |
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| Enthalten in: |
The journal of allergy and clinical immunology. Global - 3(2023), 1 vom: 17. Feb., Seite 100179 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Jindal, Ankur Kumar [VerfasserIn] |
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| Links: |
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| Themen: |
C1 inhibitor |
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| Anmerkungen: |
Date Revised 01.12.2023 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1016/j.jacig.2023.100179 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM365176494 |
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| 100 | 1 | |a Jindal, Ankur Kumar |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Screening for type II hereditary angioedema-the "poor man's c1-inhibitor function" |
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| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a © 2023 The Author(s). | ||
| 520 | |a Background: Hereditary angioedema (HAE) is a rare genetic disease. Patients with type II HAE have normal or elevated C1-inhibitor (C1-INH) levels but C1-INH protein is dysfunctional. C1-INH function requires careful sample handling and technical expertise and may account for the lack of diagnosed patients with type II HAE in resource-limited countries | ||
| 520 | |a Objective: We sought to assess the diagnostic performance of elevated C1-INH levels in diagnosing type II HAE | ||
| 520 | |a Methods: All patients with confirmed type II HAE in Hong Kong and India were analyzed. Diagnosis was confirmed by persistent low C1-INH function and/or pathogenic SERPING1 gene mutations. Their C1-INH levels were compared with those of matched controls | ||
| 520 | |a Results: A total of 31 (14 Chinese, 17 Indian) patients with type II HAE and 31 matched controls were analyzed. Overall, 77.4% (24/31) of patients with type II HAE had elevated C1-INH levels compared with 38.7% (12 of 31) of controls (odds ratio, 2.00; 95% CI, 1.34-2.98; P = .017). C1-INH levels in patients with type II HAE were significantly higher than in controls (52.2 ± 20.0 mg/dL vs 29.1 ±3.6 mg/dL; P < .001). Findings were consistent when C1-INH values in the Chinese and Indian subgroups were analyzed separately. Receiver-operating characteristic curve demonstrated excellent performance for elevated C1-INH levels to diagnose patients with type II HAE with an area under the curve of 0.953 (95% CI, 0.941-0.992; P < .001). Positive and negative predictive values of both a low C4 and an elevated C1-INH level for patients with type II HAE were 100% and 82.9%, respectively | ||
| 520 | |a Conclusions: Low C4 and elevated C1-INH levels may be considered as a screening tool for type II HAE, especially in countries where C1-INH function testing is not readily available | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a function | |
| 650 | 4 | |a hereditary angioedema | |
| 650 | 4 | |a level | |
| 650 | 4 | |a screening | |
| 650 | 4 | |a type 2 HAE | |
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| 700 | 1 | |a Barman, Prabal |e verfasserin |4 aut | |
| 700 | 1 | |a Sil, Archan |e verfasserin |4 aut | |
| 700 | 1 | |a Chawla, Sanchi |e verfasserin |4 aut | |
| 700 | 1 | |a Au, Elaine Y L |e verfasserin |4 aut | |
| 700 | 1 | |a Rawat, Amit |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Philip H |e verfasserin |4 aut | |
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