BACKGROUND: Hereditary angio-oedema (HAE) has been associated with C1inhibitor deficiency. The first cases of type III HAE were described in patients with normal C1Inh antigenic protein level and function and normal C4 levels in 2000. This finding has been reported mostly in women with a family history and may be influenced by exogenous oestrogen exposure. OBJECTIVES: The purpose of this article is to describe the clinical, biological and genetic characteristics of a French population suffering from type III HAE. PATIENTS AND METHODS: We conducted a retrospective analysis of angio-oedema (AE) cases seen in the National Reference Centre of AE between 2000 and 2009. RESULTS: We found 26 patients (from 15 unrelated families) with type III HAE. All but four were women and presented with typical AE attacks, exacerbated by pregnancy or oral contraceptives containing oestrogens (OC). We also found that 54.5% of women were worsened with oestrogen and 23% were oestrogen dependent. All patients improved on long-term prophylactic tranexamic acid treatment; some acute attacks improved with C1Inh concentrate infusion. All of the patients had normal C1Inh and C4 levels. C1Inh function was also normal, except in women receiving OC or during a pregnancy: transient, moderately low levels (32-74% of the normal range) were found in 18 patients tested (67%). No SERPING1 gene mutation was found. Six patients from three unrelated families were heterozygous for an F12 gene variant. CONCLUSION: Diagnosis of type III HAE should be based on clinical (typical attacks, often hormonally influenced), laboratory (normal C1Inh antigenic protein) and genetic (F12 gene mutation) evidence.
BACKGROUND: Hereditary angio-oedema (HAE) has been associated with C1inhibitor deficiency. The first cases of type III HAE were described in patients with normal C1Inh antigenic protein level and function and normal C4 levels in 2000. This finding has been reported mostly in women with a family history and may be influenced by exogenous oestrogen exposure. OBJECTIVES: The purpose of this article is to describe the clinical, biological and genetic characteristics of a French population suffering from type III HAE. PATIENTS AND METHODS: We conducted a retrospective analysis of angio-oedema (AE) cases seen in the National Reference Centre of AE between 2000 and 2009. RESULTS: We found 26 patients (from 15 unrelated families) with type III HAE. All but four were women and presented with typical AE attacks, exacerbated by pregnancy or oral contraceptives containing oestrogens (OC). We also found that 54.5% of women were worsened with oestrogen and 23% were oestrogen dependent. All patients improved on long-term prophylactic tranexamic acid treatment; some acute attacks improved with C1Inh concentrate infusion. All of the patients had normal C1Inh and C4 levels. C1Inh function was also normal, except in women receiving OC or during a pregnancy: transient, moderately low levels (32-74% of the normal range) were found in 18 patients tested (67%). No SERPING1 gene mutation was found. Six patients from three unrelated families were heterozygous for an F12 gene variant. CONCLUSION: Diagnosis of type III HAE should be based on clinical (typical attacks, often hormonally influenced), laboratory (normal C1Inh antigenic protein) and genetic (F12 gene mutation) evidence.
Authors: A Deroux; I Boccon-Gibod; O Fain; P Pralong; Y Ollivier; A Pagnier; K Djenouhat; A Du-Thanh; A Gompel; C Faisant; D Launay; L Bouillet Journal: Clin Exp Immunol Date: 2016-09 Impact factor: 4.330
Authors: Tom Bowen; Marco Cicardi; Henriette Farkas; Konrad Bork; Hilary J Longhurst; Bruce Zuraw; Emel Aygoeren-Pürsün; Timothy Craig; Karen Binkley; Jacques Hebert; Bruce Ritchie; Laurence Bouillet; Stephen Betschel; Della Cogar; John Dean; Ramachand Devaraj; Azza Hamed; Palinder Kamra; Paul K Keith; Gina Lacuesta; Eric Leith; Harriet Lyons; Sean Mace; Barbara Mako; Doris Neurath; Man-Chiu Poon; Georges-Etienne Rivard; Robert Schellenberg; Dereth Rowan; Anne Rowe; Donald Stark; Smeeksha Sur; Ellie Tsai; Richard Warrington; Susan Waserman; Rohan Ameratunga; Jonathan Bernstein; Janne Björkander; Kristylea Brosz; John Brosz; Anette Bygum; Teresa Caballero; Mike Frank; George Fust; George Harmat; Amin Kanani; Wolfhart Kreuz; Marcel Levi; Henry Li; Inmaculada Martinez-Saguer; Dumitru Moldovan; Istvan Nagy; Erik W Nielsen; Patrik Nordenfelt; Avner Reshef; Eva Rusicke; Sarah Smith-Foltz; Peter Späth; Lilian Varga; Zhi Yu Xiang Journal: Allergy Asthma Clin Immunol Date: 2010-07-28 Impact factor: 3.406