[Angioedema in hereditary deficiency of complement factor 1 esterase inhibitor and alpha 1-antitrypsin].
METHODS
A 15-year-old girl had suffered from episodic, sometimes threatening angioedema of the face, nasopharyngeal space and distal extremities beginning at age 13.


RESULTS
A C1-esterase inhibitor (C1-INH) deficiency was revealed protein-chemically and functionally. There was also an alpha (1)-antitrypsin (AAT) deficiency with heterocygotic phenotype PiMZ. The combination of C1-INH and AAT deficiency was also found in the patient's mother and brother.


RESULTS
Under 8-month therapy with 200 mg/d danazol per os (reduction of the dosis in the last month to 100 mg/d), there was no further edema, the C1-INH concentration normalized and there was also an increase in C1-INH function. During the observation period, use of the emergency set with C1-INH concentrate was not required.


CONCLUSIONS
This is the first reported case of angioedema in combination of two hereditary enzyme defects C1-INH deficiency (autosomal-dominant genetics) and AAT deficiency (autosomal-recessive). In addition to a survey of current literature, the current state of diagnostics and therapy of the hereditary angioedema is presented.
Fiedler
E
E
Universitätsklinik und Poliklinik für Dermatologie und Venerologie der Martin-Luther-Universität Halle-Wittenberg, Halle (Saale).
Hellmann
A
A
Marsch
W Ch
WCh
Helmbold
P
P
D000284:Administration, Oral; D000293:Adolescent; D000799:Angioedema / Q000188:drug therapy / Q000209:etiology*; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency* / Q000235:genetics; D003613:Danazol / Q000008:administration & dosage / Q000627:therapeutic use; D004965:Estrogen Antagonists / Q000008:administration & dosage / Q000627:therapeutic use; D005260:Female; D006801:Humans; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
D003174:Complement C1 Inactivator Proteins; D004965:Estrogen Antagonists; D003613:Danazol