Deficiencies of C1 inhibitor.
Hereditary and acquired deficiencies of the C1 inhibitor result in a single prominent symptom, namely angioedema. Angioedema may involve the skin, the gastrointestinal tract or the upper airway. Genetically determined defects in C1INH cause hereditary angioedema. The defect may be acquired as the result of an auto-antibody to C1INH or be due to the generation of anti-idiotypic antibody to monoclonal immunoglobulins as occurs in various B cell lymphoproliferative diseases. Androgens provide prophylaxis against attacks of angioedema. There is no widely approved treatment for acute attacks of angioedema although several promising drugs are now in the final stages of clinical trials.
Rosen
Fred S
FS
The CBR Institute for Biomedical Research, 800 Huntington Avenue, Boston, MA 02115, USA. rosen@cbr.med.harvard.edu
Davis
Alvin E
AE
D000799:Angioedema / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D002199:Capillary Permeability / Q000502:physiology; D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; D006801:Humans; D015843:Serpins / Q000172:deficiency* / Q000502:physiology
D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human; D015843:Serpins