
International Journal For Multidisciplinary Research
E-ISSN: 2582-2160
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Volume 7 Issue 4
July-August 2025
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Type I Hereditary Angioedema Presenting with Recurrent Life-Threatening Facial and Laryngeal Edema: A Rare Case Report from India’s Severely Underdiagnosed Population
Author(s) | Dr. Yash Manishkumar Zaveri, Dr. Shailja Swarnkar, Dr. Dev Manish Patel, Dr. Ashutosh Farkya, Dr. Vivek Patidar, Prof. Dr. Bushra Khanam |
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Country | India |
Abstract | Background: Hereditary angioedema (HAE) is a rare autosomal dominant disorder caused by C1 esterase inhibitor (C1-INH) deficiency or dysfunction, leading to bradykinin-mediated, non-pitting, non-pruritic edema. Type I HAE, the most common subtype, accounts for approximately 85% of cases. While the global prevalence is ~1 in 50,000, fewer than 500 confirmed cases have been reported from India, suggesting significant underdiagnosis. Case Presentation: We report a biochemically confirmed case of Type I HAE in a male patient with recurrent, non-urticarial swelling involving the face, lips, eyelids, and neck, often progressing to laryngeal involvement requiring intubation. Complement studies revealed decreased serum C4 (<5.9 mg/dL) and reduced C1-INH function (65%), confirming the diagnosis. Imaging excluded infectious or allergic causes. The patient was stabilized and advised long-term HAE-specific prophylaxis. Conclusion: This case underscores the diagnostic challenges of HAE in India and highlights the need for broader clinician awareness, early complement testing, and national registry initiatives to improve patient outcomes. |
Keywords | Hereditary angioedema, Type I HAE, C1 esterase inhibitor deficiency, recurrent angioedema, airway obstruction, India, underdiagnosis. |
Field | Medical / Pharmacy |
Published In | Volume 7, Issue 4, July-August 2025 |
Published On | 2025-07-23 |
DOI | https://doi.org/10.36948/ijfmr.2025.v07i04.51889 |
Short DOI | https://doi.org/g9t2ft |
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E-ISSN 2582-2160

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10.36948/ijfmr
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