Testing Patterns and Disparities for Alpha-1 Antitrypsin Deficiency

Riley, Leonard; Sriram, Aryaman; Brantly, Mark; Lascano, Jorge

doi:10.1016/j.amjmed.2023.06.020

Cited by 4 publications

(4 citation statements)

References 34 publications

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“…Our observations are in accordance with the study of Riley L et al 5 showing that A1ATD continues to have low uptake in the clinical setting despite the GOLD recommendations suggesting a broader screening. Even in a specialized hospital in which the test is widely available and free of charge, still the absence of awareness leads to a very low frequency of performance of the measurement reflecting the main cause which leads into the underdiagnosis of the disease.…”

Section: Discussionsupporting

confidence: 92%

Lack of awareness for alpha-1 antitrypsin deficiency: A single-center retrospective study

Zaneli,

Vafeiadis,

Bartziokas

et al. 2024

Pneumon

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Section: Discussionsupporting

confidence: 92%

Lack of awareness for alpha-1 antitrypsin deficiency: A single-center retrospective study

Zaneli,

Vafeiadis,

Bartziokas

et al. 2024

Pneumon

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“…In addition to environmental factors, individuals who have a genetic predisposition, such as AATD, can develop COPD. A recent study demonstrated that the primary factors for favoring AAT testing were whether the patient was of the White race and had concomitant COPD and liver disease [23]. This same study also observed that increasing age, being non-White, current tobacco use, and being a male with COPD reduced the odds of AAT testing being performed [23].…”

Section: Aatd: a Historical And Biological Perspectivementioning

confidence: 72%

“…A recent study demonstrated that the primary factors for favoring AAT testing were whether the patient was of the White race and had concomitant COPD and liver disease [23]. This same study also observed that increasing age, being non-White, current tobacco use, and being a male with COPD reduced the odds of AAT testing being performed [23]. Therefore, there is bias in performing AAT testing and screening in certain populations.…”

Section: Aatd: a Historical And Biological Perspectivementioning

confidence: 77%

Testing Alpha-1 Antitrypsin Deficiency in Black Populations

Lafortune,

Zahid,

Ploszaj

et al. 2023

ARM

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Alpha-1 antitrypsin (AAT) deficiency (AATD) is an under-recognized hereditary disorder and a significant cause of chronic obstructive pulmonary disease (COPD), a disease that contributes to global mortality. AAT is encoded by the SERPINA1 gene, and severe mutation variants of this gene increase the risk of developing COPD. AATD is more frequently screened for in non-Hispanic White populations. However, AATD is also observed in other ethnic groups and very few studies have documented the mutation frequency in these other ethnic populations. Here, we review the current literature on AATD and allele frequency primarily in Black populations and discuss the possible clinical outcomes of low screening rates in a population that experiences poor health outcomes and whether the low frequency of AATD is related to a lack of screening in this population or a truly low frequency of mutations causing AATD. This review also outlines the harmful SERPINA1 variants, the current epidemiology knowledge of AATD, health inequity in Black populations, AATD prevalence in Black populations, the clinical implications of low screening of AATD in this population, and the possible dangers of not diagnosing or treating AATD.

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“…Targeted detection programs should form part of the guidelines for COPD management. There is a need to challenge the overemphasis on screening only White populations ( 14 ). In a recent study in cystic fibrosis, an autosomal-recessive genetic disorder with a Northern European origin, >12% of the 982 participants enrolled were a race other than non-Hispanic White ( 15 ).…”

mentioning

confidence: 99%

Provider Education in Alpha 1 Antitrypsin Deficiency: Try Again, Fail Again, Fail Better

Roche,

Carroll,

Mcelvaney

2023

ATS Scholar

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Testing Patterns and Disparities for Alpha-1 Antitrypsin Deficiency

Cited by 4 publications

References 34 publications

Lack of awareness for alpha-1 antitrypsin deficiency: A single-center retrospective study

Lack of awareness for alpha-1 antitrypsin deficiency: A single-center retrospective study

Testing Alpha-1 Antitrypsin Deficiency in Black Populations

Provider Education in Alpha 1 Antitrypsin Deficiency: Try Again, Fail Again, Fail Better

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