PMID- 25800328
OWN - NLM
STAT- MEDLINE
DCOM- 20160824
LR  - 20151102
IS  - 1579-2129 (Electronic)
IS  - 0300-2896 (Linking)
VI  - 51
IP  - 11
DP  - 2015 Nov
TI  - Alpha-1 Antitrypsin Deficiency in COPD Patients: A Cross-Sectional Study.
PG  - 539-43
LID - S0300-2896(15)00064-2 [pii]
LID - 10.1016/j.arbres.2015.01.008 [doi]
AB  - INTRODUCTION: Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder 
      associated with early onset chronic obstructive pulmonary disease (COPD) and 
      liver disease. It is also a highly under-diagnosed condition. As early diagnosis 
      could prompt specific interventions such as smoking cessation, testing of family 
      members, genetic counselling and use of replacement therapy, screening programs 
      are needed to identify affected patients. OBJECTIVE: To estimate the prevalence 
      of severe AATD in COPD patients by routine dried blood spot testing and 
      subsequent genotyping in patients with alpha-1 antitrypsin (AAT) levels below an 
      established threshold. MATERIALS AND METHODS: Cross-sectional study of adult COPD 
      patients attending the Hospital Dr. Antonio Cetrangolo (Buenos Aires, Argentina) 
      between 2009 and 2012. The study consisted of capillary blood collection via 
      finger stick to determine AAT levels, clinical evaluation and lung function 
      tests. Genotype was determined in AAT-deficient patients. RESULTS: A total of 
      1,002 patients were evaluated, of whom 785 (78.34%) had normal AAT levels, while 
      low AAT levels were found in 217 (21.66%). Subsequent genotyping of the latter 
      sub-group found: 15 (1.5%, 95% CI 0.75-2.25) patients with a genotype associated 
      with severe AATD, of whom 12 were ZZ (1.2%, 95% CI 0.52-1.87) and 3 SZ (0.3%, 95% 
      CI 0-0.64). The remaining 202 patients were classified as: 29 Z heterozygotes 
      (2.89%, 95% CI 1.86-3.93), 25 S heterozygotes (2.5%, 95% CI 1.53-3.46) and 4 SS 
      (0.4%, 95% CI 0.01-0.79). A definitive diagnosis could not be reached in 144 
      patients (14.37%, 95% CI 12.2-16.54). CONCLUSION: The strategy using an initial 
      serum AAT level obtained by dried blood spot testing and subsequent genotyping 
      was a satisfactory initial approach to a screening program for severe AAT, as a 
      definitive diagnosis was achieved in 87% of patients. However, results were not 
      obtained for logistical reasons in the remaining 13%. This major obstacle may be 
      overcome by the use of dried blood spot phenotyping techniques. We believe this 
      approach for detecting AATD in COPD patients, in compliance with national and 
      international guidelines, is supported by our results.
CI  - Copyright (c) 2014 SEPAR. Published by Elsevier Espana. All rights reserved.
FAU - Sorroche, Patricia Beatriz
AU  - Sorroche PB
AD  - Sector Laboratorio Central, Hospital Italiano de Buenos Aires, Buenos Aires, 
      Argentina. Electronic address: patricia.sorroche@hospitalitaliano.org.ar.
FAU - Fernandez Acquier, Mariano
AU  - Fernandez Acquier M
AD  - Hospital zonal especializado de agudos y cronicos Dr. Antonio Cetrangolo, Buenos 
      Aires, Argentina.
FAU - Lopez Jove, Orlando
AU  - Lopez Jove O
AD  - Hospital zonal especializado de agudos y cronicos Dr. Antonio Cetrangolo, Buenos 
      Aires, Argentina.
FAU - Giugno, Eduardo
AU  - Giugno E
AD  - Hospital zonal especializado de agudos y cronicos Dr. Antonio Cetrangolo, Buenos 
      Aires, Argentina.
FAU - Pace, Salvador
AU  - Pace S
AD  - Hospital zonal especializado de agudos y cronicos Dr. Antonio Cetrangolo, Buenos 
      Aires, Argentina.
FAU - Livellara, Beatriz
AU  - Livellara B
AD  - Sector Laboratorio Central, Hospital Italiano de Buenos Aires, Buenos Aires, 
      Argentina.
FAU - Legal, Susana
AU  - Legal S
AD  - Sector Laboratorio Central, Hospital Italiano de Buenos Aires, Buenos Aires, 
      Argentina.
FAU - Oyhamburu, Jose
AU  - Oyhamburu J
AD  - Sector Laboratorio Central, Hospital Italiano de Buenos Aires, Buenos Aires, 
      Argentina.
FAU - Saez, Maria Soledad
AU  - Saez MS
AD  - Sector Laboratorio Central, Hospital Italiano de Buenos Aires, Buenos Aires, 
      Argentina.
LA  - eng
LA  - spa
PT  - Journal Article
DEP - 20150321
PL  - Spain
TA  - Arch Bronconeumol
JT  - Archivos de bronconeumologia
JID - 0354720
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
CIN - Arch Bronconeumol. 2015 Nov;51(11):535-6. PMID: 26143134
MH  - Adult
MH  - Aged
MH  - Algorithms
MH  - Argentina/epidemiology
MH  - Comorbidity
MH  - Cross-Sectional Studies
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Isoelectric Focusing
MH  - Male
MH  - Mass Screening
MH  - Middle Aged
MH  - Nephelometry and Turbidimetry
MH  - Phenotype
MH  - Prevalence
MH  - Pulmonary Disease, Chronic Obstructive/*epidemiology
MH  - Real-Time Polymerase Chain Reaction
MH  - Smoking/epidemiology
MH  - Spirometry
MH  - alpha 1-Antitrypsin/blood
MH  - alpha 1-Antitrypsin Deficiency/diagnosis/*epidemiology/genetics
OTO - NOTNLM
OT  - Alpha-1 antitrypsin deficiency
OT  - Chronic obstructive pulmonary disease
OT  - Dried blood spot testing
OT  - Deficit de alfa 1 antitripsina
OT  - Enfermedad pulmonar obstructiva cronica
OT  - Medicion de la concentracion de proteina en sangre seca
EDAT- 2015/03/25 06:00
MHDA- 2016/08/25 06:00
CRDT- 2015/03/25 06:00
PHST- 2014/09/24 00:00 [received]
PHST- 2014/12/10 00:00 [revised]
PHST- 2015/01/02 00:00 [accepted]
PHST- 2015/03/25 06:00 [entrez]
PHST- 2015/03/25 06:00 [pubmed]
PHST- 2016/08/25 06:00 [medline]
AID - S0300-2896(15)00064-2 [pii]
AID - 10.1016/j.arbres.2015.01.008 [doi]
PST - ppublish
SO  - Arch Bronconeumol. 2015 Nov;51(11):539-43. doi: 10.1016/j.arbres.2015.01.008. 
      Epub 2015 Mar 21.