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Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families

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Autor(es):
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Veronez, Camila Lopes [1] ; Moreno, Adriana S. [2] ; Constantino-Silva, Rosemeire Navickas [3] ; Maia, Luana S. M. [2] ; Ferriani, Mariana P. L. [2] ; Castro, Fabio F. M. [4] ; Valle, Solange Rodrigues [5] ; Nakamura, Victor Koji [1] ; Cagini, Nathalia [1] ; Goncalves, Rozana Fatima [6] ; Mansour, Eli [7] ; Serpa, Faradiba Sarquis [8] ; Coelho Dias, Gabriela Andrade [9] ; Piccirillo, Miguel Alberto [10] ; Toledo, Eliana [11] ; Bernardes, Marli de Souza [12] ; Cichon, Sven [13, 14, 15] ; Stieber, Christiane [16, 17, 18, 19] ; Arruda, L. Karla [2] ; Pesquero, Joao Bosco [1] ; Grumach, Anete Sevciovic [3]
Número total de Autores: 21
Afiliação do(s) autor(es):
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[1] Univ Fed Sao Paulo, Dept Biophys, Ctr Res & Mol Diagnost Genet Dis, Sao Paulo, SP - Brazil
[2] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Med, Ribeirao Preto, SP - Brazil
[3] Fac Med ABC, Div Clin Immunol, Santo Andre, SP - Brazil
[4] Univ Sao Paulo, Sch Med, Div Allergy & Clin Immunol, Sao Paulo, SP - Brazil
[5] Fed Univ Rio Janeiro, Cidade Univ, Rio De Janeiro, RJ - Brazil
[6] Private Allergy & Immunol Clin, Belo Horizonte, MG - Brazil
[7] Univ Estadual Campinas, Sch Med, Div Clin Allergy & Immunol, Campinas, SP - Brazil
[8] Santa Casa de Misericordia Vitoria, Sch Med, Vitoria, ES - Brazil
[9] Univ Estado Rio De Janeiro, Div Allergy & Immunol, Rio De Janeiro, RJ - Brazil
[10] Private Allergy & Immunol Clin, Londrina, PR - Brazil
[11] State Univ Sao Jose do Rio Preto, Sch Med, Sao Jose Do Rio Preto, SP - Brazil
[12] Private Allergy & Immunol Clin, Foz Do Iguacu, PR - Brazil
[13] Univ Hosp Basel, Div Med Genet, Basel - Switzerland
[14] Univ Basel, Dept Biomed, Basel - Switzerland
[15] Res Ctr Juelich, Inst Neurosci & Med INM 1, Julich - Germany
[16] Univ Bonn, Sch Med, Inst Human Genet, Bonn - Germany
[17] Univ Hosp Bonn, Bonn - Germany
[18] Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn - Germany
[19] Univ Hosp Bonn, Ctr Rare Dis Bonn, Bonn - Germany
Número total de Afiliações: 19
Tipo de documento: Artigo Científico
Fonte: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE; v. 6, n. 4, p. 1209+, JUL-AUG 2018.
Citações Web of Science: 10
Resumo

BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in the F12 gene have been identified in subsets of patients with HAE with normal C1-INH, mostly within families of European descent. OBJECTIVES: Our aim was to describe clinical characteristics observed in Brazilians from 42 families with HAE and F12 gene mutations (FXII-HAE), and to compare these findings with those from other populations. METHODS: We evaluated a group of 195 individuals, which included 102 patients clinically diagnosed with FXII-HAE and their 93 asymptomatic relatives. RESULTS: Genetic analysis revealed that of the 195 subjects, 134 individuals (77.6% females) carried a pathogenic mutation in F12. The T328K substitution was found in 132 individuals, and the c.971\_1018 + 24del72 deletion was found in 2 patients. The mean age at onset of symptoms in patients with FXII-HAE was 21.1 years. The most common symptoms were subcutaneous edema (85.8% of patients), abdominal pain attacks (69.7%), and upper airway edema (32.3%). Of male individuals carrying F12 mutations, 53.3% (16 of 30) were symptomatic. Compared with reports from Europe, fewer female patients (68.6%) reported an influence of estrogen on symptoms. CONCLUSIONS: Our study included a large number of patients with FXII-HAE, and, as the first such study conducted in a South American population, it highlighted significant differences between this and other study populations. The high number of symptomatic males and patients with estrogen-independent FXII-HAE found here suggests that male sex and the absence of a hormonal influence should not discourage clinicians from searching for F12 mutations in cases of HAE with normal C1-INH. (C) 2017 American Academy of Allergy, Asthma \& Immunology. (AU)

Processo FAPESP: 14/27198-8 - Estabelecimento de um centro de pesquisa genética e molecular para desafios clínicos
Beneficiário:João Bosco Pesquero
Modalidade de apoio: Auxílio à Pesquisa - Temático
Processo FAPESP: 13/02661-4 - Genética do angioedema hereditário
Beneficiário:João Bosco Pesquero
Modalidade de apoio: Auxílio à Pesquisa - Regular
Processo FAPESP: 11/24142-3 - O Papel da Calicreína Plasmática no Angioedema Hereditário: Análise Genética e Funcional.
Beneficiário:Camila Lopes Veronez
Modalidade de apoio: Bolsas no Brasil - Doutorado
Processo FAPESP: 11/23439-2 - Angioedema hereditário: importância da análise molecular no diagnóstico e patogênese em famílias brasileiras
Beneficiário:Adriana Santos Moreno
Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado