Clinical presentation and diagnosis of hereditary angio-oedema in five families.
The clinical features of 16 patients with deficiency of C1 esterase inhibitor are described. Severity ranged from no symptoms in 2 young subjects to repeated and severe abdominal pain and angio-oedema. Diagnostic techniques are described and the ease with which the diagnosis can be established is emphasized. A functional assay is required in addition to immunological determination of the protein in order to detect a minority of patients who have ineffective inhibitor. Experience of treatment with tranexamic acid is reviewed and its place in management in relation to androgens is discussed.
D000328:Adult; D000799:Angioedema / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency; D003165:Complement System Proteins / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014148:Tranexamic Acid / Q000627:therapeutic use
D003174:Complement C1 Inactivator Proteins; D014148:Tranexamic Acid; D003165:Complement System Proteins