International Journal For Multidisciplinary Research

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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
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
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