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Screening for type II hereditary angioedema-the "poor man's c1-inhibitor function"
Ankur Kumar Jindal1, Valerie Chiang2, Prabal Barman1
1Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
The Journal of Allergy and Clinical Immunology. Global
|November 29, 2023
Summary
Elevated C1-inhibitor (C1-INH) levels can help diagnose type II hereditary angioedema (HAE), even when C1-INH protein function tests are unavailable. This finding supports using C1-INH levels as a screening tool for HAE diagnosis in resource-limited settings.
Area of Science:
- Genetics and Immunology
- Rare Diseases
- Diagnostic Medicine
Background:
- Hereditary angioedema (HAE) is a rare genetic disorder.
- Type II HAE involves dysfunctional C1-inhibitor (C1-INH) protein, despite normal or elevated levels.
- Difficulties in C1-INH function testing may limit diagnoses in certain regions.
Purpose of the Study:
- To evaluate the diagnostic accuracy of elevated C1-INH levels for identifying type II HAE.
- To compare C1-INH levels in type II HAE patients with healthy controls.
Main Methods:
- Analysis of 31 type II HAE patients (Hong Kong and India) and 31 matched controls.
- Diagnosis confirmed by low C1-INH function and/or SERPING1 gene mutations.
- Comparison of C1-INH levels between patient and control groups.
Main Results:
- 77.4% of type II HAE patients had elevated C1-INH levels, versus 38.7% of controls (OR 2.00, P=.017).
- Significantly higher C1-INH levels were observed in HAE patients (52.2 mg/dL) compared to controls (29.1 mg/dL) (P<.001).
- Receiver-operating characteristic analysis showed excellent diagnostic performance (AUC 0.953).
Conclusions:
- Elevated C1-INH levels show high diagnostic performance for type II HAE.
- Low C4 and elevated C1-INH levels can serve as a valuable screening tool.
- This approach is particularly useful in areas lacking C1-INH function testing capabilities.
