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The Panorama of Primary Angioedema in the Brazilian Population
The Panorama of Primary Angioedema in the Brazilian Population
- Source :
- The journal of allergy and clinical immunology. In practice. 9(6)
- Publication Year :
- 2020
-
Abstract
- Background Primary angioedema (PA) is a complex disorder, presenting multiple hereditary (hereditary angioedema) and acquired subtypes (acquired angioedema). Despite a very similar clinical presentation among subtypes, the differential diagnosis is limited by the difficulty to identify bradykinin-mediated PA and the lack of specific biomarkers. Objectives To report the clinical and genetic features of Brazilian patients with PA. Methods Brazilian patients referred from 50 centers were diagnosed on the basis of clinical symptoms, C1 inhibitor (C1-INH) and C4 plasma measurements, and DNA sequencing of genes associated with hereditary angioedema. Results We characterized 92 patients with acquired angioedema and 425 with HAE: 125 with C1-INH deficiency, 180 with F12 mutations, and 120 of unknown cause. Thirty-one different mutations were identified in SERPING1 and 2 in F12, in addition to 2 mutations of uncertain significance in the ANGPT1 gene. The molecular diagnosis was decisive for 34 patients with HAE without family history, and for 39% of patients with inconsistent biochemical measurements. The median delay in diagnosis was 10 years, with a maximum of 18 years for HAE with C1-INH deficiency. Androgens and tranexamic acid were the most used drugs for long-term prophylaxis in all the PA subtypes, and they were used on demand by 15% of patients. Only 10% of patients reported the use of specific medication for HAE during attacks. Conclusions Our analysis exposes a broad picture of PA diagnosis and management in a developing country. Complement measurements presented considerable inconsistencies, increasing the diagnosis delay, while patients with PA with normal C1-INH remain with an inaccurate diagnosis and unspecific treatment.
- Subjects :
- medicine.medical_specialty
Bradykinin
C1-inhibitor
03 medical and health sciences
0302 clinical medicine
medicine
Immunology and Allergy
Humans
030212 general & internal medicine
Family history
Angioedema
biology
business.industry
Angioedemas, Hereditary
Sequence Analysis, DNA
medicine.disease
Dermatology
030228 respiratory system
Hereditary angioedema
biology.protein
Brazilian population
medicine.symptom
Differential diagnosis
business
Complement C1 Inhibitor Protein
Tranexamic acid
Brazil
Rare disease
medicine.drug
Subjects
Details
- ISSN :
- 22132201
- Volume :
- 9
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- The journal of allergy and clinical immunology. In practice
- Accession number :
- edsair.doi.dedup.....24055811da2aa85479fcc0cc1b12463a