Angioedema in hereditary deficiency of complement factor 1 esterase inhibitor and alpha 1-antitrypsin

• Published in: Deutsche medizinische Wochenschrift Vol. 130; no. 4; p. 150
• Main Authors: Fiedler, E, Hellmann, A, Marsch, W Ch, Helmbold, P
• Format: Journal Article
• Language: German
• Published: Germany 28.01.2005
• Subjects: Administration, Oral; Adolescent; alpha 1-Antitrypsin Deficiency - complications; alpha 1-Antitrypsin Deficiency - diagnosis; alpha 1-Antitrypsin Deficiency - genetics; Angioedema - drug therapy; Angioedema - etiology; Complement C1 Inactivator Proteins - deficiency; Complement C1 Inactivator Proteins - genetics; Danazol - administration & dosage; Danazol - therapeutic use; Estrogen Antagonists - administration & dosage; Estrogen Antagonists - therapeutic use; Female; Humans
• ISSN: 0012-0472

A 15-year-old girl had suffered from episodic, sometimes threatening angioedema of the face, nasopharyngeal space and distal extremities beginning at age 13. 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. 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. 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.