PMID- 26032475
OWN - NLM
STAT- MEDLINE
DCOM- 20160407
LR  - 20150713
IS  - 2213-2201 (Electronic)
VI  - 3
IP  - 4
DP  - 2015 Jul-Aug
TI  - Suspecting and Testing for Alpha-1 Antitrypsin Deficiency-An Allergist's and/or 
      Immunologist's Perspective.
PG  - 506-11
LID - S2213-2198(15)00179-8 [pii]
LID - 10.1016/j.jaip.2015.04.005 [doi]
AB  - Alpha-1 antitrypsin deficiency (AATD) is a hereditary, monogenic disorder with no 
      unique clinical features. AATD can be difficult to diagnose as patients commonly 
      present with respiratory symptoms often mistaken for other respiratory syndromes 
      such as asthma or smoking-related chronic obstructive pulmonary disease. In 
      addition, symptoms related to AATD may also affect other organs, including the 
      liver, vasculature, and skin. The severity of AATD varies between individuals, 
      and in severe cases, the irreversible lung damage can develop into emphysema. 
      Early diagnosis is critical to enable the implementation of lifestyle changes and 
      therapeutic options that can slow further deterioration of pulmonary tissue. Once 
      AATD is suspected, a range of tests are available (serum alpha-1 proteinase 
      inhibitor [A1-PI] level measurement, phenotyping, genotyping, gene sequencing) 
      for confirming AATD. Currently, intravenous infusion of A1-PI is the only therapy 
      that directly addresses the underlying cause of AATD, and has demonstrated 
      efficacy in a recent randomized, placebo-controlled trial. This review discusses 
      the etiology, testing, and management of AATD from the allergist's and/or 
      immunologist's perspective. It aims to raise awareness of the condition among 
      physicians who care for people with obstructive lung disorders and are therefore 
      likely to see patients with obstructive lung disease that may, in fact, prove to 
      be AATD.
CI  - Copyright (c) 2015 The Authors. Published by Elsevier Inc. All rights reserved.
FAU - Craig, Timothy J
AU  - Craig TJ
AD  - Hershey Medical Center, Penn State University, Hershey, Pa. Electronic address: 
      tcraig@psu.edu.
LA  - eng
PT  - Clinical Conference
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20150529
PL  - United States
TA  - J Allergy Clin Immunol Pract
JT  - The journal of allergy and clinical immunology. In practice
JID - 101597220
RN  - alpha-1-Antitrypsin Deficiency, Autosomal Recessive
SB  - IM
MH  - Allergy and Immunology
MH  - Humans
MH  - Physicians
MH  - Specialization
MH  - *alpha 1-Antitrypsin Deficiency/diagnosis/etiology/physiopathology/therapy
OTO - NOTNLM
OT  - Alpha-1 antitrypsin deficiency
OT  - Asthma
OT  - COPD
OT  - Diagnosis
OT  - Emphysema
OT  - Screening
OT  - Testing
EDAT- 2015/06/03 06:00
MHDA- 2016/04/08 06:00
CRDT- 2015/06/03 06:00
PHST- 2015/02/27 00:00 [received]
PHST- 2015/04/16 00:00 [revised]
PHST- 2015/04/17 00:00 [accepted]
PHST- 2015/06/03 06:00 [entrez]
PHST- 2015/06/03 06:00 [pubmed]
PHST- 2016/04/08 06:00 [medline]
AID - S2213-2198(15)00179-8 [pii]
AID - 10.1016/j.jaip.2015.04.005 [doi]
PST - ppublish
SO  - J Allergy Clin Immunol Pract. 2015 Jul-Aug;3(4):506-11. doi: 
      10.1016/j.jaip.2015.04.005. Epub 2015 May 29.