[Hereditary angioedema in a 16-year-old girl].
The angioedema may be connected with immunological or allergic reactions, rarely appears as a genetically determined hereditary disorder. The cause of hereditary genetically determined angioedema is the defect of complement due to lack or decreased activity of Cl esterase inhibitor with the low serum C4 complement. The acquired angioedema is the most frequently the effect of lymphoproliferative and autoimmunological diseases. Hereditary angioedema was clinically characterized by subcutaneous oedema of extremities, face, neck, throat, gastrointestinal tract and brain. Tranexamic acid, sigma-aminocaproic acid and anabolic steroids- Danazol and Stanazol are administered for short- and long-term prophylaxis. Life-threatening recurrent episodes of angioedema were treated with replacement therapy. We present a case of hereditary angioedema in a 16-year-old girl admitted to hospital with massive facial oedema. The recurrence of symptoms without any effect of typical treatment was the indication for additional diagnostic tests. Diagnostic and therapeutic problems and a variable clinical course of disease were described.
Kozowicz
Małgorzata
M
Klinki Pediatrii Slaskiej Akademii Medycznej w Katowicach. klinikapediatrii@slam.katowice.pl
Kordys-Darmolińska
Bozena
B
Kasznia-Kocot
Joanna
J
Woś
Halina
H
Zukowska
Beata
B
Kwaśniak
Anna
A
D000293:Adolescent; D015119:Aminocaproic Acid / Q000627:therapeutic use; D000799:Angioedema / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000933:Antifibrinolytic Agents / Q000627:therapeutic use; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency*; D003181:Complement C4 / Q000032:analysis; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D010375:Pedigree
D000933:Antifibrinolytic Agents; D003174:Complement C1 Inactivator Proteins; D003181:Complement C4; D015119:Aminocaproic Acid