RT Journal Article
T1 Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.
A1 Jardim, José R
A1 Casas-Maldonado, Francisco
A1 Fernandes, Frederico Leon Arrabal
A1 Castellano, Maria Vera Cruz de O
A1 Torres-Durán, María
A1 Miravitlles, Marc
AB Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease. Early diagnosis is essential for implementing preventive measures and limiting the disease burden. Although national and international guidelines for the diagnosis and management of AATD have been available for 20 years, more than 85% of cases go undiagnosed and therefore untreated. In Brazil, reasons for the underdiagnosis of AATD include a lack of awareness of the condition among physicians, a racially diverse population, serum AAT levels being assessed in a limited number of individuals, and lack of convenient diagnostic tools. The diagnosis of AATD is based on laboratory test results. The standard diagnostic approach involves the assessment of serum AAT levels, followed by phenotyping, genotyping, gene sequencing, or combinations of those, to detect the specific mutation. Over the past 10 years, new techniques have been developed, offering a rapid, minimally invasive, reliable alternative to traditional testing methods. One such test available in Brazil is the A1AT Genotyping Test, which simultaneously analyzes the 14 most prevalent AATD mutations, using DNA extracted from a buccal swab or dried blood spot. Such advances may contribute to overcoming the problem of underdiagnosis in Brazil and elsewhere, as well as being likely to increase the rate detection of AATD and therefore mitigate the harmful effects of delayed diagnosis.
YR 2021
FD 2021-05-31
LK https://hdl.handle.net/10668/26085
UL https://hdl.handle.net/10668/26085
LA en
LA pt
DS RISalud
RD Apr 8, 2025