PMID- 35124356
OWN - NLM
STAT- MEDLINE
DCOM- 20220331
LR  - 20221018
IS  - 1532-3064 (Electronic)
IS  - 0954-6111 (Linking)
VI  - 193
DP  - 2022 Mar
TI  - Labelling Alpha-1 antitrypsin deficiency in the medical record - A call to 
      action.
PG  - 106749
LID - S0954-6111(22)00014-2 [pii]
LID - 10.1016/j.rmed.2022.106749 [doi]
AB  - Alpha-1 antitrypsin deficiency (AATD) is an autosomal codominant genetic cause of 
      chronic obstructive pulmonary disease (COPD) with over 100 allelic variants 
      described. The normal allele is termed "M"; whereas, the "Z" and "S" alleles are 
      the most common abnormal alleles. The ZZ combination accounts for 95% of cases 
      with severe disease. We described the characteristics of patients given the label 
      of AATD in the medical record. Our analysis found there is significant 
      heterogeneity with regards to labelling subjects with AATD in the medical record, 
      and this was true irrespective of the subjects age, gender, PFT measurements, 
      tobacco pack years, or if the physician was a pulmonologist. In summary, this 
      study highlights the need for continued investigation of the role of other 
      mutations developing disease and options for more specific labelling of subjects 
      with non-severe AATD and severe AATD to provide additional clarity for the 
      patient and healthcare providers.
CI  - Published by Elsevier Ltd.
FAU - Riley, Leonard
AU  - Riley L
AD  - Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep 
      Medicine, Malcom Randal Veterans Affairs Medical Center, Gainesville, FL, USA; 
      Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep 
      Medicine, University of Florida College of Medicine, Gainesville, FL, USA. 
      Electronic address: elmer.riley@medicine.ufl.edu.
FAU - Lascano, Jorge
AU  - Lascano J
AD  - Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep 
      Medicine, Malcom Randal Veterans Affairs Medical Center, Gainesville, FL, USA.
LA  - eng
PT  - Journal Article
DEP - 20220201
PL  - England
TA  - Respir Med
JT  - Respiratory medicine
JID - 8908438
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
CIN - Arch Bronconeumol. 2022 Oct;58(10):731-732. PMID: 35764466
MH  - Alleles
MH  - Humans
MH  - Medical Records
MH  - *Pulmonary Disease, Chronic Obstructive/etiology/genetics
MH  - alpha 1-Antitrypsin/genetics
MH  - *alpha 1-Antitrypsin Deficiency/complications/epidemiology/genetics
OTO - NOTNLM
OT  - AATD
OT  - Alpha-1 antitrypsin deficiency
OT  - Medical record
EDAT- 2022/02/07 06:00
MHDA- 2022/04/01 06:00
CRDT- 2022/02/06 20:33
PHST- 2021/10/26 00:00 [received]
PHST- 2022/01/13 00:00 [revised]
PHST- 2022/01/23 00:00 [accepted]
PHST- 2022/02/07 06:00 [pubmed]
PHST- 2022/04/01 06:00 [medline]
PHST- 2022/02/06 20:33 [entrez]
AID - S0954-6111(22)00014-2 [pii]
AID - 10.1016/j.rmed.2022.106749 [doi]
PST - ppublish
SO  - Respir Med. 2022 Mar;193:106749. doi: 10.1016/j.rmed.2022.106749. Epub 2022 Feb 
      1.