[Hereditary deficiency of C1-esterase inhibitor presenting with recurrent abdominal pain].
Hereditary deficiency of C1-esterase inhibitor (C1-INH) which clinically manifests as hereditary angioedema is a rare disorder. In previously not diagnosed cases, a fatality rate of up to 30 % has been reported. The diagnosis of C1-esterase inhibitor deficiency should not be missed in patients presenting with angioedema in the face, stem or extremities. We report the case of a 17-year-old girl with recurrent abdominal pain and swelling of the hands.
Steiss
J O
JO
Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität, Giessen.
Mayser
P
P
Gortner
L
L
Alzen
G
G
D015746:Abdominal Pain / Q000209:etiology*; D000293:Adolescent; D000799:Angioedema / Q000000981:diagnostic imaging / Q000235:genetics*; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007415:Intestinal Obstruction / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D012008:Recurrence; D014463:Ultrasonography
D003174:Complement C1 Inactivator Proteins