Home
|
Inbox
|
Search
|
View Abstract
The Irish National Alpha-1 Antitrypsin Deficiency Targeted Detection Programme
Description
.abstract img { width:300px !important; height:auto; display:block; text-align:center; margin-top:10px } .abstract { overflow-x:scroll } .abstract table { width:100%; display:block; border:hidden; border-collapse: collapse; margin-top:10px } .abstract td, th { border-top: 1px solid #ddd; padding: 4px 8px; } .abstract tbody tr:nth-child(even) td { background-color: #efefef; } .abstract a { overflow-wrap: break-word; word-wrap: break-word; }
A1954 - The Irish National Alpha-1 Antitrypsin Deficiency Targeted Detection Programme
Author Block: T. P. Carroll1, L. T. Fee1, M. Molloy1, E. Pentony2, I. Ferrarotti3, S. Ottaviani3, N. G. McElvaney4; 1Alpha One Foundation, Dublin, Ireland, 2Chemical Pathology, Beaumont Hospital, Dublin, Ireland, 3University of Pavia, Pavia, Italy, 4Beaumont Hospital, Dublin, Ireland.
AAT deficiency (AATD) is a hereditary disorder caused by mutations in the SERPINA1 gene, and is linked to risk for early-onset COPD, liver, and skin disease. The most common disease-causing SERPINA1 mutation is Z (Glu342Lys, rs28929474), with S (Glu264Val, rs17580) weakly associated with lung disease. Globally, AATD is under-diagnosed and prolonged delays in diagnosis are common. Joint ATS/ERS guidelines advocate screening all COPD, poorly-controlled asthma, and cryptogenic liver disease patients, as well as first degree relatives of known AATD patients. Over 18,500 individuals have been screened to date following ATS/ERS guidelines in the national targeted detection programme. AAT phenotyping is by isoelectric focusing and AAT levels are determined by immune turbidimetry. Rare and novel mutations are identified by sequencing of SERPINA1. We have identified 320 ZZ, 295 SZ, 95 SS, 2839 MZ, 1904 MS, and over 200 individuals with rare phenotypes (e.g. IZ, FZ, IS, Null, Mmalton). A number of novel SERPINA1 mutations have also been identified, including 5 distinct Null (Q0) mutations. Our results demonstrate the high prevalence of AATD in Ireland and the efficacy of a targeted detection strategy. The advantages of early and accurate diagnosis are manifold, particularly regarding pulmonary and liver surveillance, smoking cessation measures, specific treatments, family member testing, and mitigation against occupational and environmental exposures. We strongly advocate that all COPD patients should be tested for AATD, regardless of age or smoking status, as per ATS/ERS 2003 guidelines.
Author Block: T. P. Carroll1, L. T. Fee1, M. Molloy1, E. Pentony2, I. Ferrarotti3, S. Ottaviani3, N. G. McElvaney4; 1Alpha One Foundation, Dublin, Ireland, 2Chemical Pathology, Beaumont Hospital, Dublin, Ireland, 3University of Pavia, Pavia, Italy, 4Beaumont Hospital, Dublin, Ireland.
AAT deficiency (AATD) is a hereditary disorder caused by mutations in the SERPINA1 gene, and is linked to risk for early-onset COPD, liver, and skin disease. The most common disease-causing SERPINA1 mutation is Z (Glu342Lys, rs28929474), with S (Glu264Val, rs17580) weakly associated with lung disease. Globally, AATD is under-diagnosed and prolonged delays in diagnosis are common. Joint ATS/ERS guidelines advocate screening all COPD, poorly-controlled asthma, and cryptogenic liver disease patients, as well as first degree relatives of known AATD patients. Over 18,500 individuals have been screened to date following ATS/ERS guidelines in the national targeted detection programme. AAT phenotyping is by isoelectric focusing and AAT levels are determined by immune turbidimetry. Rare and novel mutations are identified by sequencing of SERPINA1. We have identified 320 ZZ, 295 SZ, 95 SS, 2839 MZ, 1904 MS, and over 200 individuals with rare phenotypes (e.g. IZ, FZ, IS, Null, Mmalton). A number of novel SERPINA1 mutations have also been identified, including 5 distinct Null (Q0) mutations. Our results demonstrate the high prevalence of AATD in Ireland and the efficacy of a targeted detection strategy. The advantages of early and accurate diagnosis are manifold, particularly regarding pulmonary and liver surveillance, smoking cessation measures, specific treatments, family member testing, and mitigation against occupational and environmental exposures. We strongly advocate that all COPD patients should be tested for AATD, regardless of age or smoking status, as per ATS/ERS 2003 guidelines.
|
Home
|
Inbox
|
Search
|