The important role of primary care providers in the detection of alpha-1 antitrypsin deficiency

Lascano, Jorge; Campos, Michael

doi:10.1080/00325481.2017.1381539

Cited by 12 publications

(12 citation statements)

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“…Although it is recommended that every chronic obstructive pulmonary disease (COPD) patient be tested for AATD, the condition still remains severely underdiagnosed with a delay of several years between the initial appearance of symptoms and when the diagnosis is actually made [5]. If this patient had been screened for AATD at an earlier age, he would have been started on the appropriate treatment immediately after being diagnosed, minimizing his symptoms.…”

Section: Discussionmentioning

confidence: 99%

“…If this patient had been screened for AATD at an earlier age, he would have been started on the appropriate treatment immediately after being diagnosed, minimizing his symptoms. Screening patients for AATD is especially important in the primary care setting because primary care physicians are most likely to be the first to encounter symptomatic individuals [5]. Novel screening tests, such as the AlphaKit® QuickScreen (Grifols International, SA, Barcelona, Spain), which can detect the abnormal AAT protein in capillary whole blood, are great tools that can be used to simply exclude AATD in the overall COPD population [6].…”

Section: Discussionmentioning

confidence: 99%

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The Importance of Early Identification of Alpha-1 Antitrypsin Deficiency

Buttar¹,

Bernstein²

2018

Cureus

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Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder that is easily managed if diagnosed and treated at an early age. It is often missed, however, especially in patients with long histories of smoking and alcohol use. This is mainly due to a lack of awareness and proper screening of the disorder, especially in the primary care setting. Here, we will focus on a case report of a young male whose diagnosis and treatment of AATD was significantly delayed. His lung and liver complications had initially been attributed to his smoking and drinking history. This delay could have been avoided by increasing awareness of AATD and through the implementation of novel screening tests that can quickly rule out the disorder in patients presenting with lung and liver disease.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The Importance of Early Identification of Alpha-1 Antitrypsin Deficiency

Buttar¹,

Bernstein²

2018

Cureus

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“…It is often subject to delayed diagnosis because (1) Asymptomatic AAT level reductions, as low as 85% of normal circulation levels in healthy individuals, can be easily detected in random assessments [ 8 ]; (2) Biochemical analyses, such as western blotting and enzymelinked immunosorbent assays, can misinterpret the inactivated form of AAT as the functional form [ 9 ]; and (3) Relative functional deficiency can exist as shown through the failure of AAT under physiological conditions [ 10 ]. AAT deficiency affects 1/4,000–1/5,000 people and 1%–2% of all chronic obstructive pulmonary disease (COPD) patients in the United States [ 11 ]. The main clinical conditions associated with AAT deficiency include COPD and liver cirrhosis.…”

Section: Overview Of Aat Therapymentioning

confidence: 99%

Therapeutic potential of alpha-1 antitrypsin in human disease

Kim

Cai

2018

Ann Pediatr Endocrinol Metab

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Alpha-1 antitrypsin (AAT), an alpha globulin glycoprotein, is a member of the serine protease inhibitor (serpin) superfamily. The clinical significance of AAT is highlighted by AAT deficiency. Genetic deficiency of AAT can present as several neutrophilic diseases associated with emphysema, liver cirrhosis, panniculitis, and systemic vasculitis. Recently, animal and human studies have shown that AAT can control inflammatory, immunological, and tissue-protective responses. In addition, AAT treatment can prevent overt hyperglycemia, increase insulin secretion, and reduce cytokine-mediated apoptosis of pancreatic β-cells in diabetes. These multifunctional roles of AAT draw attention to the glycoprotein’s therapeutic potential for many inflammatory and autoimmune diseases beyond AAT deficiency. As underlying mechanisms, recent studies have suggested the importance of serine protease inhibitory activity of AAT in obesity-associated insulin resistance, chronic obstructive pulmonary disease, and cystic fibrosis. In this review, we explore the multiple functions of AAT, in particular, the anti-inflammatory and serine protease inhibitory functions, and AAT’s therapeutic potential in a variety of human diseases through published literature.

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“…ex., DAAT) podem ter estado envolvidos e não ter sido diagnosticados. 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

“…The Latin American Project for the Investigation of Obstructive Lung Disease 14 found spirometric evidence of persistent airflow obstruction in 15.8% of the sampled population in Brazil (963 adults > 40 years of age in the city of São Paulo), of whom 12.5% had never been exposed to tobacco smoke, suggesting that other risk factors (e.g., AATD) may have been involved and undiagnosed. Reasons for underdiagnosis of AATD in Brazil include a lack of awareness of the condition among physicians, particularly because a laboratory diagnosis is the only method of identifying AATD in individuals with COPD 15 ; a racially diverse population, which may cause individuals of European ancestry, who have a higher frequency of alleles involved in early lung changes, to be overlooked 16 ; and, until recently, the lack of rapid and convenient diagnostic methods. 9 …”

Section: Introductionmentioning

confidence: 99%

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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The important role of primary care providers in the detection of alpha-1 antitrypsin deficiency

Abstract: Improving primary care provider awareness and promoting regular reflex testing all COPD patients for AATD may significantly improve the care of COPD patients.

Cited by 12 publications

References 74 publications

The Importance of Early Identification of Alpha-1 Antitrypsin Deficiency

The Importance of Early Identification of Alpha-1 Antitrypsin Deficiency

Therapeutic potential of alpha-1 antitrypsin in human disease

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

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