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Alpha-1 Antitrypsin Deficiency Liver Disease [PDF]

Clinics in Liver Disease, 2021
Liver disease in homozygous ZZ alpha-1 antitrypsin (AAT) deficiency occurs due to the accumulation of large quantities of AAT mutant Z protein polymers in the liver. The mutant Z protein folds improperly during biogenesis and is retained within the hepatocytes rather than appropriately secreted.
Dhiren, Patel, Shannon L, McAllister, Jeffrey H, Teckman   +2 more
semanticscholar   +5 more sources

Alpha-1 antitrypsin deficiency

Medicina Clínica (English Edition), 1977
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitrypsin (AAT) that can lead to serious lung and liver disease in children and adults. AATD patients face challenges such as under diagnosis, clinical variability, and limited treatment options for liver disease.
Francisco Dasí
semanticscholar   +9 more sources

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

Orphanet Journal of Rare Diseases
Background Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1.
Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko   +2 more
doaj   +2 more sources

Alpha-1 Antitrypsin Deficiency: Home Therapy

Frontiers in Pharmacology, 2021
While available in only a few countries, home therapy is a possible strategy for the treatment of alpha-1 antitrypsin deficiency. We want to describe our experience in the management of human alpha-1 antitrypsin using home care intravenous augmentation ...
Anna Annunziata, Maurizia Lanza, Antonietta Coppola, Paolo Andreozzi, Sara Spinelli, Giuseppe Fiorentino   +5 more
doaj   +2 more sources

COVID-19 outcomes in individuals with severe alpha-1 antitrypsin deficiency in Sweden [PDF]

Scientific Reports
We have previously found using questionnaire/interview data on COVID-19 outcomes, that most subjects with severe alpha-1-antitrypsin deficiency (AATD) exhibit mild COVID-19 infection and those who additionally have COPD are at increased risk of severe ...
Suneela Zaigham, Eeva Piitulainen, Hanan Tanash   +2 more
doaj   +2 more sources

Detection of alpha-1 antitrypsin deficiency: the past, present and future

Orphanet Journal of Rare Diseases, 2020
Background Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development.
Mark Brantly, Michael Campos, Angela M. Davis, Jeanine D’Armiento, Kenneth Goodman, Kathi Hanna, Miriam O’Day, John Queenan, Robert Sandhaus, James Stoller, Charlie Strange, Jeffrey Teckman, Adam Wanner   +12 more
doaj   +2 more sources

Monocytes and Macrophages in Alpha-1 Antitrypsin Deficiency

International Journal of COPD, 2020
Kylie BR Belchamber,1 Eloise M Walker,1 Robert A Stockley,1 Elizabeth Sapey1,2 1Birmingham Acute Care Research Group, Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; 2NIHR Clinical Research Facility Birmingham, University ...
Belchamber KBR, Walker EM, Stockley RA, Sapey E   +3 more
doaj   +2 more sources

Pulmonary artery aneurysm as a rare manifestation of Alpha-1 antitrypsin deficiency [PDF]

Respiratory Medicine Case Reports
Alpha-1 antitrypsin is a relatively well-known genetic disease known to primarily affect the lungs and liver. Extrapulmonary manifestations of this disease have been reported, including vascular aneurysms.
Mark A. Colantonio, Sanjana Aggarwal, Himanshu Deshwal   +2 more
doaj   +2 more sources

Alpha-1 antitrypsin deficiency [PDF]

Respiratory Medicine CME, 2010
To review the topic of alpha-1 antitrypsin (AAT) deficiency.Narrative literature review.Much work has been carried out on this condition with many questions being answered but still further questions remain.AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly.
Kelly, Emer, Greene, Catherine M, Carroll, Tomas P, McElvaney, Noel G, O'Neill, Shane J   +4 more
  +9 more sources

Augmentation Therapy for Severe Alpha-1 Antitrypsin Deficiency Improves Survival and Is Decoupled from Spirometric Decline—A Multinational Registry Analysis

American Journal of Respiratory and Critical Care Medicine, 2023
Rationale Intravenous plasma-purified alpha-1 antitrypsin (IV-AAT) has been used as therapy for alpha-1 antitrypsin deficiency (AATD) since 1987. Previous trials (RAPID and RAPID-OLE) demonstrated efficacy in preserving computed tomography of lung ...
D. Fraughen, Auyon J. Ghosh, B. Hobbs, G. Funk, T. Meischl, Christian F. Clarenbach, N. Sievi, K. Schmid-Scherzer, O. McElvaney, M. Murphy, A. Roche, Louise C. D. Clarke, M. Strand, F. Vafai-Tabrizi, G. Kelly, C. Gunaratnam, T. Carroll, N. G. Mcelvaney   +17 more
semanticscholar   +1 more source