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[Screening for alpha1-antitrypsin deficiency using dried blood spot: Assessment of the first 20 months]
C Chapuis Cellier1, C Narjoz2, F Zerimech3
1Centre de biologie Sud, laboratoire d'immunologie, centre hospitalier Lyon-Sud, hospices civils de Lyon & université Claude-Bernard-Lyon-1, Lyon, France.
Insights
Targeted screening for alpha1-antitrypsin deficiency (AATD) in patients with respiratory symptoms improved early diagnosis. This program showed good adherence among pulmonologists, aiding in identifying individuals at risk for lung and liver diseases.
Area of Science:
- Pulmonology
- Genetics
- Medical Diagnostics
Background:
- Alpha1-antitrypsin deficiency (AATD) is a significant risk factor for pulmonary diseases.
- Under-diagnosis of AATD remains a considerable challenge in clinical practice.
- This study reports on a targeted screening initiative for AATD.
Purpose of the Study:
- To evaluate the effectiveness of a targeted screening program for alpha1-antitrypsin deficiency.
- To assess the adherence of pulmonologists to an AATD awareness campaign.
- To identify patients with respiratory symptoms indicative of severe AATD.
Main Methods:
- Dried capillary blood samples were collected from patients consulting with pulmonologists.
- Samples were analyzed for alpha1-antitrypsin concentration, phenotype, and genotype.
- Data collection occurred over a 20-month period from March 2016 to October 2017.
Main Results:
- 718 specimens were sent for analysis, with 708 being analyzable.
- Severe AATD phenotypes were identified in 7% of samples, and intermediate deficiency in 23%.
- 108 patients (15%) carried the PI*Z allele, a risk factor for liver disease.
Conclusions:
- The targeted screening program successfully improved the early diagnosis of alpha1-antitrypsin deficiency.
- Pulmonologist adherence to the awareness campaign was high.
- The use of dried capillary blood samples facilitated the screening process.
Introduction:
Alpha1-antitrypsin deficiency is a predisposing factor for pulmonary disease and under-diagnosis is a significant problem. The results of a targeted screening in patients with respiratory symptoms possibly indicative of severe deficiency are reported here.
Methods:
Data were collected from March 2016 to October 2017 on patients who had a capillary blood sample collected during a consultation with a pulmonologist and sent to the laboratory for processing to determine alpha1-antitrypsin concentration, phenotype and possibly genotype.
Results:
In 20 months, 3728 test kits were requested by 566 pulmonologists and 718 (19 %) specimens sent: among these, 708 were analyzable and 613 were accompanied by clinical information. Of the 708 samples, 70 % had no phenotype associated with quantitative alpha1- antitrypsin deficiency, 7 % had a phenotype associated with a severe deficiency and 23 % had a phenotype associated with an intermediate deficiency. One hundred and eight patients carried at least one PI*Z allele which is considered to be a risk factor for liver disease.
Conclusions:
The results of this targeted screening program for alpha1- antitrypsin deficiency using a dried capillary blood sample reflect improvement in early diagnosis of this deficiency in lung disease with good adherence of the pulmonologists to this awareness campaign.
