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Year : 2012  |  Volume : 26  |  Issue : 2  |  Page : 83-85

Hereditary angioedema with recurrent lip swelling associated with hypothyrodism, rectal polyp, multiple apthous ulcer in sigmoid, and ascending colon

Department of Paediatrics, IMS and SUM Hospital, Bhubaneswar, India

Correspondence Address:
Dillip Kumar Dash
Department of Paediatrics, IMS and SUM Hospital, Kalinga Nagar, Bhubaneswar - 751 003
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-6691.112553

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Hereditary angioedema (HAE) is an autosomal dominant condition having congenital deficiency of C1 inhibitor and is characterized by sub mucosal and subcutaneous edema of skin, larynx, and abdomen. The disease manifests itself primarily in the extremities, face, airway, and abdominal viscera. Occasional reports have appeared linking HAE with autoimmune diseases. We report a case of HAE presenting recurrent lip swelling, bleeding from lip, hypothyroidism, and rectal polyp with multiple aphthous in sigmoid and ascending colon. Serologic tests for rheumatologic and autoimmune diseases were negative. Proper diagnosis and treatment are essential as this condition sometimes becoming life-threatening due to potential airway obstruction. This case report demonstrates the complexity of diagnosing and treating HAE with unique combination features of recurrent bleeding from lip, hypothyroidism, and rectal polyp with multiple colonic aphthous ulcers.

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