[Hereditary angioedema. A hereditary disorder in the synthesis of the complement system].
Hereditary angioedema is characterized by recurrent attacks of painless, non itching edema of the face and limbs and sometimes by abdominal symptoms. It is due to a deficiency of functional inhibitor of the first component of complement (C1 Inh). We present a case where a normal antigenic level of C1 Inh was found but no functional activity was present (B variant). A short review is given of the pathogenesis, heredity, diagnosis and treatment of the disease.
D000328:Adult; D015119:Aminocaproic Acid / Q000627:therapeutic use; D000799:Angioedema / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D003167:Complement Activation; D003174:Complement C1 Inactivator Proteins / Q000096:biosynthesis* / Q000627:therapeutic use; D003181:Complement C4 / Q000032:analysis; D003613:Danazol / Q000627:therapeutic use; D006801:Humans; D008297:Male; D010375:Pedigree
D003174:Complement C1 Inactivator Proteins; D003181:Complement C4; D003613:Danazol; D015119:Aminocaproic Acid
Hereditair angio-oedeem. Een erfelijke synthesestoornis van het complement systeem.