457 Clinical Features and Outcome of 82 Patients with Hereditary Angioedema

BACKGROUND: Hereditary angioedema due to C1 inhibitor deficiency is clinically characterized by relapsing skin and mucosal swelling, abdominal pain and life threatening upper airway obstruction. It still is a disease poor known by physicians and underdiagnosed. METHODS: We analyzed the clinical features and outcome of patients with Hereditary Angioedema from the Clinical Immunology and Allergy Division of University of São Paulo and compared them with literature. RESULTS: A total of 82 Hereditary Angioedema patients have been studied, 59 female and 23 male, with ages between 9 and 67 years. They belonged to 33 families and usually had begun to present clinical symptoms within the second decade of life. Diagnosis had been made from 06 months to 59 years after first symptoms. Spontaneous swelling was frequent, but attacks were also precipitated by trauma, pressure and emotional stress. Skin swellings were presented in 77 patients and abdominal pain attacks were related by 56 patients. Respiratory symptoms were experienced by 45 patients, 31 of them presented laringeal edema. Low levels of C4 had been noticed in all patients. Ninety percent of the patients presented quantitative deficiency. Prophylactic treatment with attenuated androgens was administered in low doses to 50 patients and was totally effective in 45, without significant side effects. Sixteen patients presented few or none manifestations without prophylactic medications. CONCLUSIONS: The described patients are similar to those reported in literature and the prophylactic treatment with attenuated androgens has been effective in controlling manifestations. The diagnosis is still late for some patients.