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Purpose of the study

Background
The investigation of the family started at the Department of Pediatrics, Nordland Central Hospital, Bodø, Norway, in 1987. On the authors duty a five year old boy was admitted with edema of an arm, face and larynx. The boy responded poorly to conventional treatment with antihistamines, steroids and adrenaline. After some time it became clear that his mother and grandfather had received the diagnosis hereditary angioneurotic edema by the Ear, Nose and Throat Department. The further investigations revealed that the boy also suffered from C1-INH deficiency, and that the kindred presumably comprised several undiagnosed members.

Aim
The main intentions in the present investigation were:

I   Characterise affected members of the family.

II To analyse clinical data from the largest family in Norway with HAE in order to extend the limited number of clinical reports on this disease.

III Establish a new functional analysis of C1-INH and to explore its availability and limitations, in order to diagnose HAE in mailed samples to our laboratory.

IV Diagnose HAE in newborns.

VI Apply new and sensitive activation assays in order to simultaneously explore the extent of multiple cascade involvement.

Next: Summaries of Findings