Early diagnosis of hereditary angioedema in children: priority should be given to genetic test.

Abstract

Background : When the diagnosis of HAE is known in a family and a child is born, the question of early diagnosis at birth arises. Indeed, the first attacks may appear as early as birth. The importance of early diagnosis comes up against biological issues: C1 Inhibitor (C1 INH) and C4 levels can be low at birth, generally in the range of 60 to 100% of adult reference values, due to the immaturity of the complement system. As most of complement proteins, their levels normalize after one year of life. We report the opposite case, in two newborns. Case presentation: A women with well documented hereditary angioedema type II C1Inh deficiency gave birth to 2 children 4 years apart. The 2 children had a functional C1Inh assay at 8 and 7 months of age respectively: the results showed a normal functional C1Inh level. A genetic investigation was nevertheless carried out, which revealed the presence of the mother’s mutation in both children. Monitoring of C1Inh function at 3 and 4 years of age finally showed a pathological reduction in C1Inh function. Conclusion : These cases lead us to recommend, for the early detection of children, genetic research of the mutation of the index parent in the child rather than the C1Inh assay