PMID- 20496303
OWN - NLM
STAT- MEDLINE
DCOM- 20100825
LR  - 20100524
IS  - 1098-9048 (Electronic)
IS  - 1069-3424 (Linking)
VI  - 31
IP  - 3
DP  - 2010 Jun
TI  - Alpha-1 antitrypsin deficiency: whom to test, whom to treat?
PG  - 343-7
LID - 10.1055/s-0030-1254074 [doi]
AB  - Alpha-1 antitrypsin deficiency (AATD) is the major identified genetic risk factor 
      for chronic obstructive pulmonary disease (COPD). The biochemical events leading 
      to lung destruction in AATD are well understood, and most of our understanding of 
      the pathogenesis of COPD in general has been acquired through the study of AATD. 
      There is a growing appreciation that early diagnosis of AATD can affect the 
      course of disease and allow for appropriate treatment decisions to be made. 
      Although there is published guidance regarding testing and treatment of AATD, the 
      impact of this guidance has been minimal. AATD is underdiagnosed, and the 
      evidence for current treatment recommendations is not without controversy. This 
      article reviews the current recommendations for testing and treatment of AATD. 
      Some of these recommendations are expected to change as legislation to prevent 
      genetic discrimination is refined and new therapies for this relatively common 
      genetic predisposition are developed. Additional genetic modifiers of COPD will 
      be found, and the path set by AATD will facilitate their incorporation into our 
      future management of COPD.
FAU - Sandhaus, Robert A
AU  - Sandhaus RA
AD  - Department of Medicine, National Jewish Health, Denver, Colorado 80206, USA. 
      sandhausr@njhealth.org
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20100521
PL  - United States
TA  - Semin Respir Crit Care Med
JT  - Seminars in respiratory and critical care medicine
JID - 9431858
SB  - IM
MH  - Decision Making
MH  - Genetic Predisposition to Disease
MH  - Genetic Testing/*methods
MH  - Humans
MH  - Practice Guidelines as Topic
MH  - Prejudice
MH  - Pulmonary Disease, Chronic Obstructive/*genetics
MH  - Risk Factors
MH  - alpha 1-Antitrypsin Deficiency/complications/diagnosis/*therapy
RF  - 26
EDAT- 2010/05/25 06:00
MHDA- 2010/08/26 06:00
CRDT- 2010/05/25 06:00
PHST- 2010/05/25 06:00 [entrez]
PHST- 2010/05/25 06:00 [pubmed]
PHST- 2010/08/26 06:00 [medline]
AID - 10.1055/s-0030-1254074 [doi]
PST - ppublish
SO  - Semin Respir Crit Care Med. 2010 Jun;31(3):343-7. doi: 10.1055/s-0030-1254074. 
      Epub 2010 May 21.