RT Journal Article
T1 Alpha-1 antitrypsin deficiency: outstanding questions and future directions.
A1 Torres-Duran, Maria
A1 Lopez-Campos, Jose Luis
A1 Barrecheguren, Miriam
A1 Miravitlles, Marc
A1 Martinez-Delgado, Beatriz
A1 Castillo, Silvia
A1 Escribano, Amparo
A1 Baloira, Adolfo
A1 Navarro-Garcia, Maria Mercedes
A1 Pellicer, Daniel
A1 Bañuls, Lucia
A1 Magallon, Maria
A1 Casas, Francisco
A1 Dasi, Francisco
K1 Alpha-1 antitrypsin
K1 Alpha-1 antitrypsin deficiency
K1 Augmentation therapy
K1 COPD
K1 Cirrhosis
K1 Panniculitis
K1 Rare respiratory diseases
K1 SERPINA1
K1 Vasculitis
AB Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research. 1) AATD is a highly underdiagnosed condition. Over 120,000 European individuals are estimated to have severe AATD and more than 90% of them are underdiagnosed. 2) Several clinical and etiological aspects of the disease are yet to be resolved. New strategies for early detection and biomarkers for patient outcome prediction are needed to reduce morbidity and mortality in these patients; 3) Augmentation therapy is the only specific approved therapy that has shown clinical efficacy in delaying the progression of emphysema. Regrettably, some countries reject registration and reimbursement for this treatment because of the lack of larger randomised, placebo-controlled trials. 4) Alternative strategies are currently being investigated, including the use of gene therapy or induced pluripotent stem cells, and non-augmentation strategies to prevent AAT polymerisation inside hepatocytes.
PB BioMed Central Ltd.
YR 2018
FD 2018-07-11
LK http://hdl.handle.net/10668/12702
UL http://hdl.handle.net/10668/12702
LA en
NO Torres-Durán M, Lopez-Campos JL, Barrecheguren M, Miravitlles M, Martinez-Delgado B, Castillo S, et al. Alpha-1 antitrypsin deficiency: outstanding questions and future directions. Orphanet J Rare Dis. 2018 Jul 11;13(1):114.
DS RISalud
RD Apr 7, 2025