PMID- 23527684
OWN - NLM
STAT- MEDLINE
DCOM- 20131115
LR  - 20151119
IS  - 1541-2563 (Electronic)
IS  - 1541-2563 (Linking)
VI  - 10 Suppl 1
DP  - 2013 Mar
TI  - The challenge of detecting alpha-1 antitrypsin deficiency.
PG  - 26-34
LID - 10.3109/15412555.2013.763782 [doi]
AB  - Alpha-1 antitrypsin deficiency (AATD) is relatively common but under-recognized. 
      Indeed, fewer than 10% of the estimated 100,000 Americans with AATD have been 
      diagnosed currently, with common reports of long delays between initial symptoms 
      and first detection and the need to see multiple physicians before diagnosis. 
      Because detection can confer benefits (e.g., identification of at-risk family 
      members, lower smoking likelihood, consideration of augmentation therapy), 
      targeted detection of AATD in at-risk groups such as all symptomatic adults with 
      COPD has been endorsed. Two general approaches to detection have been studied: 
      population-based screening (in which testing is performed in a group for whom no 
      increased risk of having AATD exists) and targeted detection or case-finding (in 
      which testing is confined to those with an attributable condition such as COPD or 
      chronic liver disease). Studies to date have suggested that population-based 
      screening is not cost-effective, whereas targeted detection of AATD has been 
      advocated by official society guidelines. Efforts to enhance detection of AATD 
      individuals have included various approaches, including educational campaigns, 
      provision of free test kits, issuance of reminders with medical reports or within 
      an electronic medical record, and empowering respiratory therapists to conduct 
      testing for AATD in pulmonary function laboratories. Such programs have 
      identified individuals with severe deficiency of alpha-1 antitrypsin in up to 12% 
      of subjects, with considerable variation across series by testing criteria. 
      Overall, the persistence of under-recognition of AATD underscores the need for 
      continued efforts to optimize detection of this potentially debilitating genetic 
      disease.
FAU - Stoller, James K
AU  - Stoller JK
AD  - Cleveland Clinic, Pulmonary & Critical Care, Cleveland, Ohio 44195, USA. 
      stollej@ccf.org
FAU - Brantly, Mark
AU  - Brantly M
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - COPD
JT  - COPD
JID - 101211769
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - Attitude of Health Personnel
MH  - Clinical Competence
MH  - Genetic Testing
MH  - Guideline Adherence
MH  - Humans
MH  - Mass Screening/*methods
MH  - Practice Patterns, Physicians'
MH  - Prevalence
MH  - alpha 1-Antitrypsin/blood
MH  - alpha 1-Antitrypsin Deficiency/blood/*diagnosis/*epidemiology/genetics
EDAT- 2013/04/03 06:00
MHDA- 2013/11/16 06:00
CRDT- 2013/03/27 06:00
PHST- 2013/03/27 06:00 [entrez]
PHST- 2013/04/03 06:00 [pubmed]
PHST- 2013/11/16 06:00 [medline]
AID - 10.3109/15412555.2013.763782 [doi]
PST - ppublish
SO  - COPD. 2013 Mar;10 Suppl 1:26-34. doi: 10.3109/15412555.2013.763782.