The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult

Sandhaus, RA; Turino, Gerard M.; Brantly, ML; Campos, Michael; Ce, Cross; K, Goodman; Dk, Hogarth; Knight, Shandra L; Jm, Stocks; Stoller, J. K.; Strange, Charlie; Teckman, Jeffrey

doi:10.15326/jcopdf.3.3.2015.0182

Cited by 138 publications

(219 citation statements)

References 35 publications

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“…In Australia and New Zealand, the best information available suggests that the gene frequency for the PiZ allele is 13 and 22 per 1000, respectively . This equates to similar predicted numbers of the severe form of PiZZ AATD as in North America of 1 in 2500 to 1 in 5000 . The frequency of the PiZ allele is reduced in most Asian populations and may be increased in Māori compared to New Zealand Europeans .…”

Section: Introductionmentioning

confidence: 58%

“…The difference in the two measures was less in patients who already had COPD . Lung volumes help further characterize the physiological impact of hyperinflation and gas trapping …”

Section: Diagnosis Of Aatdmentioning

confidence: 99%

“…More than 150 AAT variants have been described . Most have been identified by isoelectric focusing (IEF) and many further characterized by gene sequencing …”

Section: Diagnosis Of Aatdmentioning

confidence: 99%

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Diagnosis and treatment of lung disease associated with alpha one‐antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand*

et al. 2020

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AATD is a common inherited disorder associated with an increased risk of developing pulmonary emphysema and liver disease. Many people with AATD‐associated pulmonary emphysema remain undiagnosed and therefore without access to care and counselling specific to the disease. AAT augmentation therapy is available and consists of i.v. infusions of exogenous AAT protein harvested from pooled blood products. Its clinical efficacy has been the subject of some debate and the use of AAT augmentation therapy was recently permitted by regulators in Australia and New Zealand, although treatment is not presently subsidized by the government in either country. The purpose of this position statement is to review the evidence for diagnosis and treatment of AATD‐related lung disease with reference to the Australian and New Zealand population. The clinical efficacy and adverse events of AAT augmentation therapy were evaluated by a systematic review, and the GRADE process was employed to move from evidence to recommendation. Other sections address the wide range of issues to be considered in the care of the individual with AATD‐related lung disease: when and how to test for AATD, changing diagnostic techniques, monitoring of progression, disease in heterozygous AATD and pharmacological and non‐pharmacological therapy including surgical options for severe disease. Consideration is also given to broader issues in AATD that respiratory healthcare staff may encounter: genetic counselling, patient support groups, monitoring for liver disease and the need to establish national registries for people with AATD in Australia and New Zealand.

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Section: Introductionmentioning

confidence: 58%

“…The difference in the two measures was less in patients who already had COPD . Lung volumes help further characterize the physiological impact of hyperinflation and gas trapping …”

Section: Diagnosis Of Aatdmentioning

confidence: 99%

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Diagnosis and treatment of lung disease associated with alpha one‐antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand*

et al. 2020

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“…The role of augmentation therapy is clear in patients with severe AATD (AAT levels <11 μM) and a FEV 1 ࣘ65% predicted. In patients with AATD-related lung disease and FEV 1 >65% predicted, there is less evidence at present to support augmentation therapy (20). Other factors such as biology, competing risk factors, CT appearance and disease activity must be considered.…”

Section: Aat Augmentation Therapymentioning

confidence: 99%

Alpha-1-Antitrypsin Deficiency: Disease Management and Learning from Studies

Greulich

2017

COPD: Journal of Chronic Obstructive Pulmonary Disease

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“…Patients with FEV>=65% may also be considered if there is evidence of progressive lung disease despite other optimal therapy. In view of the cost of therapy and lack of evidence for much benefit, discussion with individual patient is recommended before initiation of therapy [52].…”

Section: Alpha1 Antitrypsin (Aat) Augmentationmentioning

confidence: 99%