PMID- 28929906
OWN - NLM
STAT- MEDLINE
DCOM- 20171127
LR  - 20171128
IS  - 1941-9260 (Electronic)
IS  - 0032-5481 (Linking)
VI  - 129
IP  - 8
DP  - 2017 Nov
TI  - The important role of primary care providers in the detection of alpha-1 
      antitrypsin deficiency.
PG  - 889-895
LID - 10.1080/00325481.2017.1381539 [doi]
AB  - OBJECTIVE: Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic 
      disorder that can cause chronic obstructive pulmonary disease (COPD) and liver 
      cirrhosis, two clinical conditions commonly seen by primary care physicians. AATD 
      is estimated to affect 1/4000-1/5000 people in the United States and 1-2% of all 
      COPD cases. METHODS: PubMed was searched for relevant articles using 
      AAT/AATD-related terms. RESULTS: Unfortunately, <10% of symptomatic individuals 
      have been properly diagnosed primarily due to the underdiagnosis of COPD and the 
      lack of awareness of AATD as a possible underlying cause. Because primary care 
      providers are most likely to be the first to encounter symptomatic individuals, 
      their role in the identification and early diagnosis of AATD patients is 
      instrumental, particularly since therapy to slow lung disease progression is 
      available. The diagnosis of AATD is laboratory-based rather than clinical. 
      Testing for AATD should be part of the reflex testing that follows any COPD 
      diagnosis or unexplained liver disease and can be performed by determining the 
      AAT phenotype or genotype along with serum AAT levels. Both nonpharmacological 
      and pharmacological approaches are recommended for treatment of lung disease, 
      including smoking cessation, bronchodilators or supplemental oxygen as needed. 
      Specific augmentation of AAT levels with regular purified AAT infusions has been 
      found to slow lung function decline and emphysema progression in patients with 
      moderate airflow obstruction and severely low serum AAT levels. CONCLUSIONS: 
      Improving primary care provider awareness and promoting regular reflex testing 
      all COPD patients for AATD may significantly improve the care of COPD patients.
FAU - Lascano, Jorge E
AU  - Lascano JE
AD  - a Division of Pulmonary, Critical Care and Sleep Medicine , University of Florida 
      , Gainesville , FL , USA.
FAU - Campos, Michael A
AU  - Campos MA
AD  - b Division of Pulmonary, Allergy, Critical Care and Sleep Medicine , University 
      of Miami School of Medicine , Miami , FL , USA.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20171005
PL  - England
TA  - Postgrad Med
JT  - Postgraduate medicine
JID - 0401147
RN  - 0 (Adrenal Cortex Hormones)
RN  - 0 (Bronchodilator Agents)
RN  - alpha-1-Antitrypsin Deficiency, Autosomal Recessive
SB  - IM
MH  - Adrenal Cortex Hormones/therapeutic use
MH  - Awareness
MH  - Bronchodilator Agents/therapeutic use
MH  - Disease Progression
MH  - Genotype
MH  - Humans
MH  - Liver Diseases/*etiology
MH  - Oxygen Inhalation Therapy
MH  - Phenotype
MH  - *Primary Health Care
MH  - Professional Role
MH  - Pulmonary Disease, Chronic Obstructive/*etiology/therapy
MH  - Respiratory Function Tests
MH  - Vaccination
MH  - alpha 1-Antitrypsin Deficiency/*complications/*diagnosis/physiopathology
OTO - NOTNLM
OT  - Alpha-1 antitrypsin
OT  - alpha-1 antitrypsin deficiency
OT  - chronic obstructive pulmonary disease
OT  - pulmonary dysfunction
EDAT- 2017/09/21 06:00
MHDA- 2017/11/29 06:00
CRDT- 2017/09/21 06:00
PHST- 2017/09/21 06:00 [pubmed]
PHST- 2017/11/29 06:00 [medline]
PHST- 2017/09/21 06:00 [entrez]
AID - 10.1080/00325481.2017.1381539 [doi]
PST - ppublish
SO  - Postgrad Med. 2017 Nov;129(8):889-895. doi: 10.1080/00325481.2017.1381539. Epub 
      2017 Oct 5.