Volume 200 - Issue 3
Hereditary cause of severe recurrent bowel swelling that requires targeted therapy
Authors: Suran L Fernando and Jamma Li
Med J Aust 2014; 200 (3): 179. || doi: 10.5694/mja13.10306
Published online: 17 February 2014
Published online: 17 February 2014
A mystery solved after 15 years of pain and swelling
A36-year-old woman presented to an emergency department with severe abdominal pain. She had a 15-year history of recurrent abdominal pain and cutaneous angio-oedema without accompanying urticaria. The pain and swelling were refractory to treatment with opiates, corticosteroids and adrenalin. The patient was well between attacks. Her mother had a history of similar attacks. Results of a full blood count and liver function tests were normal, as were serum levels of β-human chorionic gonadotropin, lipase and C-reactive protein. A computed tomography scan of her abdomen showed mural inflammation of the ascending colon consistent with angio-oedema (arrows).
A provisional diagnosis of hereditary angio-oedema was made. Administration of C1 esterase inhibitor promptly ameliorated the pain. Alternatively, icatibant (a bradykinin antagonist) could have been used. Results of subsequent laboratory investigations — namely low C4 level, low level and function of C1 inhibitor and normal level of C1q — confirmed the diagnosis.