Clinical Features and Outcome of 52 Patients with Hereditary Angioedema

Abstract

RATIONALE: 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 52 Hereditary Angioedema patients have been studied, 35 female and 17 male, with age between 10 and 63 years. They belonged to 24 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 48 patients and abdominal pain attacks were related by 36 patients. Respiratory symptoms were experienced by 33 patients, 21 of them presented laringeal edema. Low levels of C4 had been noticed in all patients. Ninety six percent of the patients presented quantitative deficiency. Prophylactic treatment with attenuated androgens was administered in low doses to 36 patients and was totally effective in 34, 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 have been effective in controlling manifestations. The diagnosis is still late for some patients. RATIONALE: 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 52 Hereditary Angioedema patients have been studied, 35 female and 17 male, with age between 10 and 63 years. They belonged to 24 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 48 patients and abdominal pain attacks were related by 36 patients. Respiratory symptoms were experienced by 33 patients, 21 of them presented laringeal edema. Low levels of C4 had been noticed in all patients. Ninety six percent of the patients presented quantitative deficiency. Prophylactic treatment with attenuated androgens was administered in low doses to 36 patients and was totally effective in 34, 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 have been effective in controlling manifestations. The diagnosis is still late for some patients.