OJPed  Vol.3 No.1 , March 2013
A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient

Hereditary angioedema secondary to C1-inhibitor deficiency is a rare autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor.An eight-year-old girl showed periorbital painless swelling, diagnosed as ethmoiditis. A craniofacial scan did not evidence a paranasal sinus involvement, C1INH levels were undetectable, with low C4 levels: 7.6 mg/dl and C1INH: <8.46 mg/dl. The genetic study identified a rare mutation of the C1INH gene. This clinical report is of relieve because paediatric cases described in literature are rare, did not presented a positive family history, and received a diagnosis after many attacks. Furthermore our girl received a prompt diagnosis of HAE at the first attack of angioedema.

Cite this paper
Maggio, M. , Sammarco, P. , Fabiano, C. and Corsello, G. (2013) A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient. Open Journal of Pediatrics, 3, 42-44. doi: 10.4236/ojped.2013.31008.
[1]   Bowen, B., Hawk, J.J., Sibunka, S., Hovick, S. and Weiler, J.M. (2001) A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clinical Immunology, 98, 157-163. doi:10.1006/clim.2000.4947

[2]   Verdi, M. and Shaker, M. (2011) An update on hereditary angioedema. Advanced Emergency Nursing Journal, 33, 163-178.

[3]   Bork, K. (2012) Current management options for hereditary angioedema. Current Allergy and Asthma Reports, 12, 273-280. doi:10.1007/s11882-012-0273-4

[4]   Prematta, M., Gibbs, J.G., Pratt, E.L., Stoughton, T.R. and Craig, T.J. (2007) Fresh frozen plasma for the treatment of hereditary angioedema. Annals of Allergy, Asthma & Immunology, 98, 383-388. doi:10.1016/S1081-1206(10)60886-1

[5]   Farkas, H. (2010) Pediatric hereditary angioedema due to C1-inhibitor deficiency. Allergy Asthma & Clinical Immunology, 6, 18. doi:10.1186/1710-1492-6-18

[6]   Krishnamurthy, A., Naguwa, S.M. and Gershwin, M.E. (2008) Pediatric angioedema. Clinical Reviews in Allergy and Immunology, 34, 250-259. doi:10.1007/s12016-007-8037-y

[7]   Gosswein, T., Kocot, A., Emmert, G., Kreuz, W., Martinez-Saguer, I., Aygoren-Pürsün, E., Rusicke, E., Bork, K., Oldenburg, J. and Müller, C.R. (2008) Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema. Gytogenetic and Genome Research, 121, 181-188. doi:10.1159/000138883

[8]   Pappalardo, E., Caccia, S., Suffritti, C., Tordai, A., Zingale, L.C. and Cicardi, M. (2008) Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: Functional and structural correlates. Molecular Immunology, 45, 3536-3544. doi:10.1016/j.molimm.2008.05.007

[9]   Kalmar, L., Hegedus, T., Farkas, H., Nagy, M. and Tordai, A. (2005) HAEdb: A novel interactive, locus-specific mutation database for the C1 inhibitor gene. Human Mutation, 25, 1-5. doi:10.1002/humu.20112