| Autor: |
Ankur Kumar Jindal, MD, DM, Valerie Chiang, MBBS, Prabal Barman, MD, Archan Sil, MD, Sanchi Chawla, MSc, Elaine Y.L. Au, MBBS, FRCPA, Amit Rawat, MD, Philip H. Li, MD, FRCP |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 1, Pp 100179- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2772-8293 |
| DOI: |
10.1016/j.jacig.2023.100179 |
| Popis: |
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. |
| Databáze: |
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| Externí odkaz: |
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