Diagnosing alpha-1 antitrypsin deficiency: does it prevent or improve the course of COPD?

Godoy, Irma

doi:10.1590/s1806-37562016000400002

Cited by 4 publications

(9 citation statements)

References 12 publications

(10 reference statements)

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“…(4,10,(36)(37)(38) O subdiagnóstico da DAAT no Brasil destaca a necessidade de testar pacientes com DPOC segundo as recomendações de diretrizes internacionais. (9) Três estudos realizados no Brasil constataram que a triagem sistemática da DAAT em pacientes com DPOC aumentou as chances de identificação de pacientes com mutações no gene SERPINA1. (16,39,40)…”

Section: Suspeita Clínicaunclassified

“…(6,7) O diagnóstico precoce da DAAT é uma prioridade porque permite a implementação de medidas preventivas, como evitar o tabagismo e a exposição a poluentes ambientais, e identificar candidatos à intervenção terapêutica. (9) O diagnóstico precoce pode modificar a história natural da DAAT e melhorar dramaticamente os desfechos dos pacientes. (10) Na prática clínica, no entanto, a DAAT é amplamente subdiagnosticada em razão da baixa suspeita clínica, bem como da falta de conhecimento sobre a doença e de testes diagnósticos adequados.…”

Section: Introductionunclassified

“…Os motivos para o subdiagnóstico da DAAT no Brasil incluem o desconhecimento dos médicos sobre a condição, particularmente porque o diagnóstico laboratorial é o único método de identificação da DAAT em indivíduos com DPOC (15) ; a diversidade racial da população, o que pode fazer com que indivíduos de ascendência europeia, que apresentam maior frequência de alelos envolvidos nas alterações pulmonares iniciais, sejam negligenciados (16) ; e, até recentemente, a falta de métodos diagnósticos rápidos e convenientes. (9) Este estudo de revisão fornece uma atualização sobre o diagnóstico da DAAT, incluindo ferramentas disponíveis no Brasil, e apresenta um algoritmo diagnóstico que pode auxiliar na confirmação de casos suspeitos de DAAT.…”

Section: Introductionunclassified

“…Early diagnosis of AATD is a priority because it enables implementation of preventive measures, such as avoidance of smoking and of exposure to environmental pollutants, and identifies candidates for therapeutic intervention. 9 Early diagnosis can modify the natural history of AATD and dramatically improve patient outcomes. 10 In clinical practice, however, AATD is largely underdiagnosed due to low clinical suspicion, as well as lack of knowledge about the disease and of appropriate diagnostic tests.…”

Section: Introductionmentioning

confidence: 99%

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Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil

et al. 2021

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A deficiência de alfa-1 antitripsina (DAAT) é um distúrbio genético raro causado por uma mutação no gene SERPINA1, que codifica o inibidor de protease alfa-1 antitripsina (AAT).A DAAT predispõe os indivíduos a DPOC e doença hepática. O diagnóstico precoce é essencial para a implementação de medidas preventivas e para limitar a carga da doença. Embora diretrizes nacionais e internacionais para o diagnóstico e manejo da DAAT estejam disponíveis há 20 anos, mais de 85% dos casos não são diagnosticados e, portanto, não são tratados. No Brasil, os motivos para o subdiagnóstico da DAAT incluem o desconhecimento dos médicos sobre a condição, a diversidade racial da população, o fato de os níveis séricos de AAT serem avaliados em um número limitado de indivíduos e a falta de ferramentas diagnósticas convenientes. O diagnóstico da DAAT baseia-se em resultados de exames laboratoriais. A abordagem diagnóstica padrão envolve a avaliação dos níveis séricos de AAT, seguida de fenotipagem, genotipagem, sequenciamento gênico ou suas combinações para detecção da mutação específica. Nos últimos 10 anos, novas técnicas foram desenvolvidas, oferecendo uma alternativa rápida, minimamente invasiva e confiável aos métodos tradicionais de teste. Um desses testes disponíveis no Brasil é o teste de genotipagem A1AT, que analisa simultaneamente as 14 mutações mais prevalentes da DAAT usando DNA extraído de swab bucal ou de sangue em papelfiltro. Esses avanços podem contribuir para a superação do problema do subdiagnóstico no Brasil e em outros países, bem como podem aumentar a taxa de detecção da DAAT e, portanto, mitigar os malefícios do diagnóstico tardio.Descritores: Deficiência de alfa 1-antitripsina/diagnóstico; Deficiência de alfa 1-antitripsina/ genética; Técnicas de genotipagem.

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Section: Suspeita Clínicaunclassified

Section: Introductionunclassified

Section: Introductionmentioning

confidence: 99%

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Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil

et al. 2021

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“…Although the A1AT dosage is recommended to be checked routinely in patients with COPD, as suggested by the World Health Organization (WHO), the examination is rarely done due to unawareness, the unavailability of the test, and its high cost to the health system. Knowledge about these characteristics in a Brazilian population of patients can allow for a systematic screening criteria to be designed for individuals with high pretest probability for positive screening, 10 saving costs associated with the generalized screening for all patients with COPD.…”

Section: Introductionmentioning

confidence: 99%

The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in Brazil

et al. 2018

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Objective: The clinical, functional, radiological and genotypic descriptions of patients with an alpha-1 antitrypsin (A1AT) gene mutation in a referral center for COPD in Brazil. Methods: A cross-sectional study of patients with an A1AT gene mutation compatible with deficiency. We evaluated the A1AT dosage and genotypic, demographic, clinical, tomographic, and functional characteristics of these patients. Results: Among the 43 patients suspected of A1AT deficiency (A1ATD), the disease was confirmed by genotyping in 27 of them. The A1AT median dosage was 45 mg/dL, and 4 patients (15%) had a normal dosage. Median age was 54, 63% of the patients were male, and the respiratory symptoms started at the age of 40. The median FEV1 was 1.37L (43% predicted). Tomographic emphysema was found in 77.8% of the individuals. The emphysema was panlobular in 76% of them and 48% had lower lobe predominance. The frequency of bronchiectasis was 52% and the frequency of bronchial thickening was 81.5%. The most common genotype was Pi*ZZ in 40.7% of participants. The other genotypes found were: Pi*SZ (18.5%), PiM1Z (14.8%), Pi*M1S (7.4%), Pi*M2Z (3.7%), Pi*M1I (3.7%), Pi*ZMnichinan (3.7%), Pi*M3Plowell (3.7%), and Pi*SF (3.7%). We did not find any significant difference in age, smoking load, FEV1, or the presence of bronchiectasis between the groups with a normal and a reduced A1AT dosage, neither for 1 nor 2-allele mutation for A1ATD. Conclusions: Our patients presented a high frequency of emphysema, bronchiectasis and bronchial thickening, and early-beginning respiratory symptoms. The most frequent genotype was Pi*ZZ. Heterozygous genotypes and normal levels of A1AT also manifested significant lung disease.

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Small airway evaluation in three subjects with alpha-1 antitrypsin deficiency without diagnosed lung disease

et al. 2021

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We describe three cases of female subjects (aged 16, 44 and 41 years) with no respiratory symptoms, who have alpha-1 antitripsyn mutation (PiSZ, PiZZ and PiZZ) and who performed traditional pulmonary function tests and the single breath nitrogen washout test. They still did not have chronic obstructive pulmonary disease (COPD) or any identifiable change in traditional pulmonary function tests but already have change in nitrogen washout tests. Alpha-1 antitrypsin deficiency is a genetic disorder associated with early-onset COPD. There is evidence that although patients who have well-preserved FEV1 may already have signs of emphysema associated with symptoms. Therefore, the nitrogen washout test is considered to have more sensitive outcomes than other pulmonary function tests for early investigation of small airways disease and could allow the monitoring pulmonary function and evaluating of therapeutic decision.

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Diagnosing alpha-1 antitrypsin deficiency: does it prevent or improve the course of COPD?

Cited by 4 publications

References 12 publications

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil

The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in Brazil

Small airway evaluation in three subjects with alpha-1 antitrypsin deficiency without diagnosed lung disease

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