PMID- 30648036
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 2168-8184 (Print)
IS  - 2168-8184 (Electronic)
IS  - 2168-8184 (Linking)
VI  - 10
IP  - 10
DP  - 2018 Oct 25
TI  - The Importance of Early Identification of Alpha-1 Antitrypsin Deficiency.
PG  - e3494
LID - 10.7759/cureus.3494 [doi]
LID - e3494
AB  - Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder that is easily 
      managed if diagnosed and treated at an early age. It is often missed, however, 
      especially in patients with long histories of smoking and alcohol use. This is 
      mainly due to a lack of awareness and proper screening of the disorder, 
      especially in the primary care setting. Here, we will focus on a case report of a 
      young male whose diagnosis and treatment of AATD was significantly delayed. His 
      lung and liver complications had initially been attributed to his smoking and 
      drinking history. This delay could have been avoided by increasing awareness of 
      AATD and through the implementation of novel screening tests that can quickly 
      rule out the disorder in patients presenting with lung and liver disease.
FAU - Buttar, Barjinder S
AU  - Buttar BS
AD  - Internal Medicine, Zucker School of Medicine / Northwell Health Mather Hospital, 
      Port Jefferson, USA.
FAU - Bernstein, Mark
AU  - Bernstein M
AD  - Internal Medicine, Zucker School of Medicine / Northwell Health Mather Hospital, 
      Port Jefferson, USA.
LA  - eng
PT  - Case Reports
DEP - 20181025
PL  - United States
TA  - Cureus
JT  - Cureus
JID - 101596737
PMC - PMC6318138
OTO - NOTNLM
OT  - aatd
OT  - alpha-1 antitrypsin deficiency
OT  - cirrhosis
OT  - copd
OT  - emphysema
OT  - prolastin
OT  - screening
COIS- The authors have declared that no competing interests exist.
EDAT- 2019/01/17 06:00
MHDA- 2019/01/17 06:01
PMCR- 2018/10/25
CRDT- 2019/01/17 06:00
PHST- 2019/01/17 06:00 [entrez]
PHST- 2019/01/17 06:00 [pubmed]
PHST- 2019/01/17 06:01 [medline]
PHST- 2018/10/25 00:00 [pmc-release]
AID - 10.7759/cureus.3494 [doi]
PST - epublish
SO  - Cureus. 2018 Oct 25;10(10):e3494. doi: 10.7759/cureus.3494.