Chest
Clinical InvestigationsAlpha1-Antitrypsin Pi-Types in 965 COPD Patients
Section snippets
Battent Selection
Blood samples were obtained from consecutive patients hospitalized for carotid body surgery by BW; serum was separated and delivered to our laboratory at the Sepulveda VA Medical Center. All patients were Caucasian, ranging in age from 41 to 85 years, with a mean± SD of 65.3±7.5 yrs; 28 percent of the patients were women. All had far-advanced COPD with severe dyspnea as their main complaint. Information such as age of onset of lung disease was not available.
STIC Assay
STIC was assayed essentially as
Prevalence of Abnormal Phenotypes
Two separate formats were used for evaluating the Pi-type of these sera. Initially, for the first 223 specimens, phenotyping was performed only when the STIC value was less than 1.2 units. Subsequently, for the next 742 specimens, phenotyping was performed on all sera, irrespective of the STIC value. Table 1 shows that approximately half of the MS Pi-types were missed initially by not typing all sera; 4.9 percent MS types appeared with STIC values less than 1.2 units, whereas 10.1 percent
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Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison
2020, Clinical BiochemistryCitation Excerpt :The outlier is the QC-G protocol in which the homozygous Z variant genotype frequency was 2.6% of iAG. This relatively lower rate is equivalent to that found in an unselected chronic obstructive pulmonary disease population [13,14] as one would expect in a protocol which is not restricted by serum A1AT concentration. A similar inter-laboratory pattern was also observed for the compound heterozygote SZ genotype: the genotype frequency in three of the labs (5.2–8.0%) was higher than the lower rate (2.7%) in the QC-G protocol (Table 1).
Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians
2019, The Lancet Respiratory MedicineCitation Excerpt :This could prompt some clinicians to believe that the rate of detection of clinically significant genotypes would be low. However, the evidence suggests that severe AATD is overrepresented in certain populations, observed in as many as 2% of patients with COPD.13 The clinical motivation to test for AATD should not simply be the detection of severe deficiency of AAT.
The new epidemiology of COPD
2024, ERS MonographAlpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT
2024, International Journal of COPD
Supported by the Medical Research Service of the Veterans Administration.
Manuscript received July 15; revision accepted September 12.