Clinical profile of patients with C1-inhibitor deficiency from Eastern India

C1-inhibtor deficiency or hereditary angioedema is a rare, autosomal dominant disorder that is characterized by severe episodic attacks of angioedema that can affect any part of the body. It is caused by mutations in the C1-inhibitor gene (C1-INH or SERPING 1 gene) that is mapped to chromosome 11 (11q12-q13.1). The majority of patients have a family history although 25% of cases can be de novo mutations (i.e., no family history). Distinguishing the angioedema due to C1-inhibitor deficiency from allergic or idiopathic angioedema requires clinical acumen, and this delay in diagnosis leads to unnecessary surgical interventions, and in unfortunate cases, mortality that is now possible to prevent with easy access to screening tests and proper management.

Abstract licence: CC BY-NC-SA

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