Hereditary C1-esterase-inhibitor deficiency type I. Divergent clinical symptoms and laboratory findings

A 35- and a 29-year-old woman presented with longstanding recurrent angioed ema refractory to therapy with steroids and anti-histaminic drugs laborator y data revealed in both cases a functional and immunohistochemical deficien cy of C1-esterase-inhibitor protein (C1-INH). Further investigations of the ir families showed some individuals with the same pathological findings wit hout any clinical symptoms. Thus we identified striking differences in degr ee of severety 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 antihistames dr ugs. Furthermore we give a picture of the different clinical courses of C1- INH-deficiency type I and underline that there is no correlation between cl inical symptoms and laboratory findings.