The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCO

Stockley, Robert A.; Pye, Anita; De Soyza, Joshua; Turner, Alice M.; Miravitlles, Marc; ,; Torres-Duran, María; Tanash, Hanan; Rodríguez-García, Carlota; López-Campos, José Luis; Chlumsky, Jan; Guimaraes, Catarina; Rodríguez-Hermosa, Juan Luis; Corsico, Angelo; Martinez-González, Cristina; Hernández-Pérez, José María; Bustamante, Ana; Parr, David G.; Casas-Maldonado, Francisco; Hecimovic, Ana; Janssens, Wim; Lara, Beatriz; Barrecheguren, Miriam; González, Cruz; Stolk, Jan; Clarenbach, Christian F.

doi:10.1186/s13023-023-02830-2

Cited by 6 publications

(1 citation statement)

References 27 publications

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“…The establishment of a European AATD data base, EARCO (European Antitrypsin Research Collaborative), enabled this association to be explored further to determine the proportion of AATD patients who presented with bronchiectasis alone. In the initial analysis of over 800 patients with ZZ deficiency, of whom almost 50% had radiological reports of CT scans available, 9% of the patients had radiological features of bronchiectasis alone with little impairment of lung function and most were female with minimal or no smoking history, which may partly explain the lack of emphysema [ 31 ].…”

Section: The Presence and Clinical Relevance Of Bronchiectasismentioning

confidence: 99%

Antitrypsin deficiency: still more to learn about the lung after 60 years

Stockley,

Parr

2024

ERJ Open Res

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The past 60 years has seen multiple publications related to lung disease in Alph-1 Antitrypsin deficiency largelyreflectingthe pathophysiology, biochemical effect and outcomes of augmentation therapy. However, the complexity of disease phenotype and the impact of the natural history presents problems of patient management, study design and hence interpretation of outcome. Although many National and some International registries exist the lack of consistent in-depth assessment and importantly, the impact of augmentation therapylikelyinfluences our perception of the true natural history.Development of new therapeutic strategies, and even assessment of the role and efficacy of augmentation remain a challenge as powering such studies for conventional COPD outcomes is impractical due to relative rarity of the genetic condition and the presence ofclinicalphenotypic variation.The current review approaches these issues, discusses the nature and complexity of assessing patient variability, and provides guidance on further studies required to address them.

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Section: The Presence and Clinical Relevance Of Bronchiectasismentioning

confidence: 99%

Antitrypsin deficiency: still more to learn about the lung after 60 years

Stockley,

Parr

2024

ERJ Open Res

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Alpha-1 antitrypsin deficiency associated with rare SERPINA1 alleles p.(Phe76del) and p.(Asp280Val): A family study

Lepiorz,

Baier,

Veith

et al. 2024

Respiratory Medicine Case Reports

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Personalised indication of augmentation therapy for emphysema associated with severe alpha-1 antitrypsin deficiency: a case series

Aljama,

Martin,

Granados

et al. 2024

Ther Adv Respir Dis

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Severe alpha-1 antitrypsin deficiency (AATD) is associated with an increased risk of emphysema. However, the clinical manifestations are very heterogeneous, and an individual prognosis is very difficult to establish. Intravenous augmentation therapy with alpha-1 antitrypsin (AAT) from pooled blood donors is the only specific treatment available, but it requires weekly or biweekly administration for life. Several guidelines provide the indication criteria for the initiation of AAT augmentation therapy. However, in clinical practice, there are situations in which the decision as to when to start treatment becomes uncertain and some studies have shown great variability in the indication of this treatment even among specialists. The usual dilemma is between initiating augmentation therapy in individuals who may not develop significant lung disease or in whom disease will not progress or delaying it in patients who may otherwise rapidly and irreversibly progress. We illustrate this dilemma with five clinical cases: from the case of a patient with normal lung function who requests initiation of therapy to a moderately stable patient without augmentation or a mild patient who, after several years of remaining stable without treatment, deterioration in lung function initiated and, consequently, augmentation therapy was begun. All the nuances associated with the indication of augmentation justify a personalised approach and the decision about initiating augmentation therapy must be made after careful consideration of the pros and cons with the patient in reference centres with experience in treatment. These reference centres can work in collaboration with local hospitals where patients can be closely followed and augmentation therapy can be administered to avoid unnecessary travelling, making periodical administrations more comfortable for the patient.

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The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCO

Cited by 6 publications

References 27 publications

Antitrypsin deficiency: still more to learn about the lung after 60 years

Antitrypsin deficiency: still more to learn about the lung after 60 years

Alpha-1 antitrypsin deficiency associated with rare SERPINA1 alleles p.(Phe76del) and p.(Asp280Val): A family study

Personalised indication of augmentation therapy for emphysema associated with severe alpha-1 antitrypsin deficiency: a case series

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