| Full text | |
| Author(s): Show less - |
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]
Total Authors: 12
|
| Affiliation: | [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
Total Affiliations: 9
|
| Document type: | Journal article |
| Source: | CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY; v. 61, n. 1, SI, p. 60-65, AUG 2021. |
| Web of Science Citations: | 1 |
| Abstract | |
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) | |
| FAPESP's process: | 15/25494-1 - Development of a gene therapy model for hereditary angioedema based on SERPING1 gene edition by CRISPR-Cas9 system |
| Grantee: | Camila Lopes Veronez |
| Support Opportunities: | Scholarships in Brazil - Post-Doctoral |