Update on testing for alpha-1

Marc Miravitlles, FERS Pneumology Department

Hospital Universitari Vall d’Hebron. Barcelona mmiravitlles@vhebron.net

WHO 1996 – Recommendations for AATD screening and therapy*

In 1996, the WHO adressed the issue of AAT deficiency. The recommendations included the following:

Quantitative AAT screening for all patients with COPD

Quantitative AAT screening for all patients with asthma

All identified AAT deficient patients should receive:

• Immunization against influenza and pneumococal infections

• Appropriate treatment of respiratory infections

• Genetic counseling

AAT augmentation therapy in case of AATD associated emphysema

*World Health Organization, Human Genetics Programme, Division of Noncommunicable Diseases. Alpha-1-Antitrypsin Deficiency. Report of a WHO meeting, Geneva, 18-20 March 1996

Pavia, Italy

Marburg, Germany Barcelona,

Spain

Quantitative analysis of AAT (and CRP) in plasma

Phenotyping for common variants (isoelectric focussing) and/or

Genotyping if primers are available

SERPINA1 exon sequencing

if no primers and/or null variant expected

Family testing: Parents

Siblings

Partner

Every patient with COPD should be tested for AATD

WHO 1997; 75: 397-415