Hereditary cause of severe recurrent bowel swelling that requires targeted therapy

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).