Type

Journal Article

Authors

Noel G McElvaney
James K Stoller
David A Lomas
Mark L Brantly
Ilaria Ferrarotti
Jeffrey Teckman
Stefan J Marciniak
Catherine M Greene

Subjects

Medicine & Nursing

Topics
lung disease liver disease human plasma chronic obstructive pulmonary disease copd liver transplantation endoplasmic reticulum stress 1 antitrypsin liver failure

α1-Antitrypsin deficiency. (2016)

Abstract α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes underdiagnosed or misdiagnosed as asthma, chronic obstructive pulmonary disease (COPD) or cryptogenic liver disease. The most frequent disease-associated mutations include the S allele and the Z allele of SERPINA1, which lead to the accumulation of misfolded α1-antitrypsin in hepatocytes, endoplasmic reticulum stress, low circulating levels of α1-antitrypsin and liver disease. Currently, there is no cure for severe liver disease and the only management option is liver transplantation when liver failure is life-threatening. A1ATD-associated lung disease predominately occurs in adults and is caused principally by inadequate protease inhibition. Treatment of A1ATD-associated lung disease includes standard therapies that are also used for the treatment of COPD, in addition to the use of augmentation therapy (that is, infusions of human plasma-derived, purified α1-antitrypsin). New therapies that target the misfolded α1-antitrypsin or attempt to correct the underlying genetic mutation are currently under development.
Collections Ireland -> Royal College of Surgeons in Ireland -> PubMed

Full list of authors on original publication

Noel G McElvaney, James K Stoller, David A Lomas, Mark L Brantly, Ilaria Ferrarotti, Jeffrey Teckman, Stefan J Marciniak, Catherine M Greene

Experts in our system

1
Noel G McElvaney
Royal College of Surgeons in Ireland
Total Publications: 194
 
2
Mark L Brantly
Royal College of Surgeons in Ireland
Total Publications: 3
 
3
Ilaria Ferrarotti
Royal College of Surgeons in Ireland
 
4
Catherine M Greene
Royal College of Surgeons in Ireland
Total Publications: 150