[Hereditary C1 esterase inhibitor deficiency type I. Divergence of clinical symptoms and laboratory chemical findings].
A 35- and a 29-year-old woman presented with longstanding recurrent angioedema refractory to therapy with steroids and antihistaminic drugs. Laboratory data revealed in both cases a functional and immunohistochemical deficiency of C1-esterase-inhibitor protein (C1-INH). Further investigations of their families showed some individuals with the same pathological findings without any clinical symptoms. Thus we identified striking differences in degree of severity of clinical features in hereditary C1-INH-deficiency type I. These case-reports emphasize the importance of knowing further diagnostic steps in angioedema refractory to therapy with steroids and antihistamines drugs. Furthermore we give a picture of the different clinical courses of C1-INH-deficiency type I and underline that there is no correlation between clinical symptoms and laboratory findings.
Liekenbröcker
T
T
Klinik und Poliklinik für Dermatologie und Venerologie der Medizinischen Hochschule Hannover, Ricklinger Strasse 5, 30449 Hannover.
Körner
M
M
Kapp
A
A
Elsner
J
J
D000328:Adult; D000799:Angioedema / Q000175:diagnosis / Q000235:genetics*; D001216:Asparagine / Q000235:genetics; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D003062:Codon; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006801:Humans; D010641:Phenotype
D003062:Codon; D003174:Complement C1 Inactivator Proteins; D001216:Asparagine