marc miravitlles, fers pneumology department hospital...
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Update on testing for alpha-1
Marc Miravitlles, FERS Pneumology Department
Hospital Universitari Vall d’Hebron. Barcelona [email protected]
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