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Screening for alpha1-Pi deficiency in patients with lung diseases
M Wencker1, A Marx, N Konietzko
1Dept of Pneumology, University Hospital, Ruhrlandklinik, Gelsenkirchen, Germany. mwencker@aol.com
The European Respiratory Journal
|September 6, 2002
Summary
A new method accurately quantifies alpha-1-antitrypsin (alpha1-Pi) deficiency using dried blood spots (DBS). However, screening patients with chronic lung disease did not increase the detection rate for severe alpha1-Pi deficiency.
Area of Science:
- Pulmonary Medicine
- Genetics
- Clinical Diagnostics
Background:
- Severe alpha-1-antitrypsin (alpha1-Pi) deficiency is found in 2-3% of patients with pulmonary emphysema.
- Alpha1-Pi deficiency is an inherited disorder that can cause lung disease.
Purpose of the Study:
- To evaluate the accuracy of a novel method for quantifying alpha1-Pi phenotyping from dried blood spots (DBS).
- To determine if screening at-risk populations increases the detection rate of severe alpha1-Pi deficiency.
Main Methods:
- Phenotyping results from DBS were compared to conventional methods in 555 individuals.
- 1,060 patients with chronic lung disease were prospectively screened for alpha1-Pi deficiency using DBS.
Main Results:
- The DBS phenotyping method demonstrated 100% accuracy.
- No severe PiZ deficiency was detected in 1,060 patients; 3 had PiSZ.
- Heterozygous carriers (PiMS and PiMZ) were found at frequencies similar to the general population.
Conclusions:
- The novel DBS phenotyping method for alpha1-Pi is highly accurate.
- Screening unselected patients with COPD and asthma is unlikely to detect significant numbers of severe alpha1-Pi deficiency cases.