Type III hereditary angio-oedema: clinical and biological features in a French cohort

摘要: To cite this article: Vitrat-Hincky V, Gompel A, Dumestre-Perard C, Boccon-Gibod I, Drouet Cesbron JY, Lunardi J, Massot Bouillet L. Type III hereditary angio-oedema: clinical and biological features in a French cohort. Allergy 2010; 65: 1331–1336. Abstract Background:  Hereditary angio-oedema (HAE) has been associated with C1inhibitor deficiency. The first cases of type HAE were described patients normal C1Inh antigenic protein level function C4 levels 2000. This finding reported mostly women family history may be influenced by exogenous oestrogen exposure. Objectives:  purpose article is to describe the clinical, genetic characteristics population suffering from HAE. Patients Methods:  We conducted retrospective analysis (AE) seen National Reference Centre AE between 2000 2009. Results:  found 26 (from 15 unrelated families) HAE. All but four presented typical attacks, exacerbated pregnancy or oral contraceptives containing oestrogens (OC). also that 54.5% worsened 23% dependent. improved on long-term prophylactic tranexamic acid treatment; some acute attacks concentrate infusion. had levels. was normal, except receiving OC during pregnancy: transient, moderately low (32–74% range) 18 tested (67%). No SERPING1 gene mutation found. Six three families heterozygous for an F12 variant. Conclusion:  Diagnosis should based (typical often hormonally influenced), laboratory (normal protein) (F12 mutation) evidence.