PMID- 20660539
OWN - NLM
STAT- MEDLINE
DCOM- 20110119
LR  - 20151119
IS  - 1753-4666 (Electronic)
IS  - 1753-4658 (Linking)
VI  - 4
IP  - 5
DP  - 2010 Oct
TI  - Diagnostic delay and clinical modifiers in alpha-1 antitrypsin deficiency.
PG  - 279-87
LID - 10.1177/1753465810376407 [doi]
AB  - BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is one of the most prevalent 
      inherited diseases in Whites, but identification of affected patients and 
      establishment of the diagnosis is still unsatisfactory. This study assessed the 
      latencies and numbers of physicians involved in identifying AATD patients, and 
      the importance of smoking, vaccination status, and specific augmentation therapy 
      on the course of the disease. METHOD: Patients from Germany and Austria underwent 
      a single written interview with 28 items. Five hundred and ninety-six patients 
      were addressed and 44.9% replied. RESULTS: The age at symptom onset was 39.1+/-10.1 
      years, and the diagnosis was established at the age of 45.1+/-10.9 years. From the 
      6-year delay in establishing the diagnosis, 1.4+/-1.7 (range 0.5-10.5) years were 
      due to patients' reluctance to seek medical attention. There were 3.2+/-2.4 (range 
      1-13) physicians involved in establishing the diagnosis. Smoking was associated 
      with an earlier onset of respiratory symptoms and lower exercise capacity. 
      Vaccination against pneumococci and/or influenza, and augmentation therapy 
      resulted in significantly fewer exacerbations and fewer emergency room visits. 
      Airway infections and passive smoking during childhood were not found to 
      influence the onset of respiratory symptoms. CONCLUSIONS: In conclusion, there is 
      still a large delay between symptom onset and AATD diagnosis. Smoking history, 
      vaccination status, and augmentation therapy have an important impact on the 
      course of the disease.
FAU - Kohnlein, Thomas
AU  - Kohnlein T
AD  - Hannover Medical School, Respiratory Medicine, Carl-Neuberg-Strasse 1, Hannover, 
      Germany. koehnlein.thomas@mh-hannover.de
FAU - Janciauskiene, Sabina
AU  - Janciauskiene S
FAU - Welte, Tobias
AU  - Welte T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100726
PL  - England
TA  - Ther Adv Respir Dis
JT  - Therapeutic advances in respiratory disease
JID - 101316317
RN  - 0 (Tobacco Smoke Pollution)
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Austria
MH  - Cross-Sectional Studies
MH  - Delayed Diagnosis
MH  - Exercise Tolerance
MH  - Female
MH  - Germany
MH  - Humans
MH  - Influenza, Human/prevention & control
MH  - Male
MH  - Middle Aged
MH  - Pneumococcal Infections/prevention & control
MH  - Smoking/*epidemiology
MH  - Surveys and Questionnaires
MH  - Tobacco Smoke Pollution/adverse effects
MH  - Vaccination/*statistics & numerical data
MH  - alpha 1-Antitrypsin/*administration & dosage
MH  - alpha 1-Antitrypsin Deficiency/diagnosis/*physiopathology
EDAT- 2010/07/28 06:00
MHDA- 2011/01/20 06:00
CRDT- 2010/07/28 06:00
PHST- 2010/07/28 06:00 [entrez]
PHST- 2010/07/28 06:00 [pubmed]
PHST- 2011/01/20 06:00 [medline]
AID - 1753465810376407 [pii]
AID - 10.1177/1753465810376407 [doi]
PST - ppublish
SO  - Ther Adv Respir Dis. 2010 Oct;4(5):279-87. doi: 10.1177/1753465810376407. Epub 
      2010 Jul 26.