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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Unnecessary Abdominal Surgeries in Attacks of Hereditary Angioedema with Normal C1 Inhibitor

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Autor(es):
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Gutierrez, Marcel [1] ; Veronez, Camila L. [2, 3] ; Rodrigues Valle, Solange O. [4] ; Goncalves, Rozana Fatima [5] ; Ferriani, Mariana Paes Leme [6] ; Moreno, Adriana S. [6] ; Arruda, L. Karla [6] ; Aun, Marcelo Vivolo [7, 8] ; Giavina-Bianchi, Pedro [7] ; Alonso, Maria Luiza Oliva [4] ; Pesquero, Joao B. [9] ; Grumach, Anete S. [1]
Número total de Autores: 12
Afiliação do(s) autor(es):
[1] Ctr Univ Saude ABC, Fac Med, Sao Paulo, SP - Brazil
[2] Univ Calif San Diego, Dept Med, Div Rheumatol Allergy & Immunol, San Diego, CA 92103 - USA
[3] San Diego Vet Affairs Healthcare, Res Serv, San Diego, CA - USA
[4] Univ Fed Rio de Janeiro, Hosp Univ Clementino Fraga Filho, Serv Imunol, Rio De Janeiro, RJ - Brazil
[5] Private Allergy & Immunol Clin, Belo Horizonte, MG - Brazil
[6] Univ Sao Paulo, Ribeirao Preto Sch Med, Ribeirao Preto, SP - Brazil
[7] Univ Sao Paulo, Fac Med, Hosp Clin, Sao Paulo, SP - Brazil
[8] Fac Israelita Ciencias Saude, Albert Einstein Sch Med, Sao Paulo, SP - Brazil
[9] Univ Fed Sao Paulo, Dept Biophys, Sao Paulo - Brazil
Número total de Afiliações: 9
Tipo de documento: Artigo Científico
Fonte: CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY; v. 61, n. 1, SI MAR 2021.
Citações Web of Science: 1
Resumo

Hereditary angioedema (HAE) is an autosomal dominant disease mostly due to the deficiency of C1 inhibitor (C1-INH). HAE with normal C1-INH was first described in 2000 and associated with mutations in the coagulation factor XII in 2006. Both diseases are associated with high bradykinin production, resulting in increased vascular permeability. Gastrointestinal edema due to HAE can be misdiagnosed as acute abdomen and unnecessary surgical procedures may be performed. The present study evaluates the prevalence of surgical procedures and/or acute abdomen in HAE patients with the coagulation factor XII mutation. It is a retrospective study where patients were diagnosed with recurrent angioedema without urticaria, normal C1-INH levels, and positive family history of angioedema. All patients were evaluated for the known mutations located at exon 9 of the F12 gene. Medical records were evaluated and questionnaires were applied to 52 patients with normal C1-INH levels (age range 13-76 years; 47/52, 90.38% women; 5/52, 9.61% men). F12 mutation was present in 32/52 patients (61.5%). Acute abdominal pain was diagnosed in 16/52 (30.76%) patients, appendicitis in 9/16 (56.2%), and undetermined diagnosis in 7/16 (43.7%). Among patients diagnosed with acute abdominal pain, 13/16 (81.2%) underwent surgery and 3/16 (18.7%) improved without surgical intervention. We conclude that many HAE patients with coagulation factor XII mutation were misdiagnosed with acute abdomen and subjected to unnecessary invasive procedures. It is critical to disseminate information about this rare mutation in patients with otherwise normal C1-INH activity, in order to speed up diagnosis and avoid misconduct. (AU)

Processo FAPESP: 15/25494-1 - Desenvolvimento de um modelo de terapia gênica para angioedema hereditário baseado na edição do gene SERPING1 pelo sistema CRISPR-Cas9
Beneficiário:Camila Lopes Veronez
Linha de fomento: Bolsas no Brasil - Pós-Doutorado