Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews

M Miravitlles, M Herepath, A Priyendu… - European …, 2022 - Eur Respiratory Soc
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder characterised by reduced
levels of circulating alpha-1 antitrypsin and an increased risk of lung and liver disease …

Alpha1-antitrypsin deficiency: An updated review

JF Mornex, J Traclet, O Guillaud, M Dechomet… - La Presse Médicale, 2023 - Elsevier
Abstract Alpha1-antitrypsin deficiency (AATD) is a rare autosomal recessive disease
associated with the homozygous Z variant of the SERPINA1 gene. Clinical expression of …

[HTML][HTML] Demographic and clinical characteristics of patients with α1-antitrypsin deficiency genotypes PI* ZZ and PI* SZ in the Spanish registry of EARCO

M Torres-Durán, JL López-Campos… - ERJ Open …, 2022 - Eur Respiratory Soc
Background The Spanish registry of α1-antitrypsin deficiency (AATD) integrated in the
European Alpha-1 Research Collaboration (EARCO) provides information about the …

Risk of lung disease in the PI* SS genotype of alpha-1 antitrypsin: an EARCO research project

T Martín, C Guimarães, C Esquinas, M Torres-Duran… - Respiratory …, 2024 - Springer
Abstract Background The PI* S variant is one of the most prevalent mutations within alpha-1
antitrypsin deficiency (AATD). The risk of developing AATD-related lung disease in …

The importance of reference centers and registries for rare diseases: the example of alpha-1 antitrypsin deficiency

M Miravitlles, A Nunez, M Torres-Duran… - COPD: Journal of …, 2020 - Taylor & Francis
Abstract Alpha-1 antitrypsin deficiency (AATD) is a rare and underdiagnosed disease that is
associated with the development of liver disease in adults and children and pulmonary …

Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry

M Miravitlles, AM Turner, M Torres-Duran… - Respiratory …, 2022 - Springer
Background Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with
an increased risk of pulmonary emphysema. The European AATD Research Collaboration …

Pulmonary rehabilitation for chronic obstructive pulmonary disease patients with underlying alpha-1 antitrypsin deficiency: a systematic review and practical …

FA Alwadani, K Wheeler, H Pittaway… - … Diseases: Journal of …, 2023 - pmc.ncbi.nlm.nih.gov
Background: Alpha-1 antitrypsin deficiency (AATD) is an often-overlooked genetic condition
that makes individuals susceptible to early onset of chronic obstructive pulmonary disease …

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

RA Stockley, A Pye, J De Soyza, AM Turner… - Orphanet Journal of …, 2023 - Springer
Background Although bronchiectasis has been recognised as a feature of some patients
with Alpha1-Antitrypsin deficiency the prevalence and characteristics are not widely known …

[HTML][HTML] Sex-Differences in Alpha-1 Antitrypsin Deficiency: Data From the EARCO Registry

H Ersöz, M Torres-Durán, AM Turner, H Tanash… - Archivos de …, 2025 - Elsevier
Background Sex and gender influence many aspects of chronic obstructive pulmonary
disease (COPD). Limited data are available on this topic in alpha-1 antitrypsin deficiency …

Characteristics of individuals with alpha-1 antitrypsin deficiency from Northern and Southern European countries: EARCO international registry

M Miravitlles, AM Turner… - European …, 2023 - Eur Respiratory Soc
The EARCO registry contains information on> 1000 patients with AATD from 15 countries.
The demographic characteristics and the disease characteristics are not significantly …