Diagnosis of alpha1-antitrypsin deficiency
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1 Malmö november 2008 Diagnosis of alpha1-antitrypsin deficiency Maurizio Luisetti Center for Diagnosis of AATD IRCCS San Matteo Hospital Foundation University of Pavia - Italy
2 Clinical Recognition of AATD Lab Diagnosis of AATD : an interplay of 4 biochemical methods AATD Diagnostic Algorithms Specific Issues
3 Clinical Recognition of AATD Lab Diagnosis of AATD : an interplay of 4 biochemical methods AATD Diagnostic Algorithms Specific Issues
4 ATS/ERS Statement: Standards for the Diagnosis and Management of Individuals with AATD AJRCCM 2003; 168: 818 Type A recommendation for diagnostic testing: Symptomatic adults with COPD, or asthma with airflow obstruction incompletely reversible Individuals with unexplained liver disease Asymptomatic individuals with persistent obstruction on PFTs with identifiable risk factors Adults with necrotizing panniculitis Type A recommendation for predispositional testing: Siblings of an AATD individual
5 ATS/ERS Statement: Standards for the Diagnosis and Management of Individuals with AATD AJRCCM 2003; 168: 818 Type B recommendation for diagnostic testing: Adults with bronchiectasis without evident etiology Adolescents with persistent airflow obstruction Asymptomatic individuals with persistent obstruction on PFTs and no risk factors Adults with C-ANCA positive vasculitis Type B recommendation for predispositional testing: Individuals with family history of COPD or liver disease not known to be attributed to AATD Distant relatives of an AATD individual Offspring or parents of an AATD individual Siblings, offspring, parents, distant relative of an individual heterozygous for AATD allele
6 Targeted Screening Suggestions for Clinical Recognition of AATD Early onset emphysema ( age 45 or less) Emphysema in the absence of a recognized risk factor Emphysema with prominent basilar hyperlucency Unexplained Bx Unexplained liver disease Necrotizing panniculatis C-ANCA +ve vasculitis Family history of : emphysema, Bx, liver disease, panniculitis
7 Clinical Recognition of AATD Lab Diagnosis of AATD : an interplay of 4 biochemical methods AATD Diagnostic Algorithms Specific Issues
8 Protein electrophoresis of serum from a patient with AAT deficiency + α 1 -band missing - Serum of AATD patient Serum of healthy control Modified from Eriksson Chest 1989 (95) α 1 -band missing Courtesy Talecris Slide Kit 2008
9 Possible phylogenetic tree of the AAT gene Thorax 2004
10 SERPINA1 product : protein (AAT) quantitative determination Serum Alpha1-antitrypsin protein concentration (Rocket immunoelectrophoresis) (Radial immunodiffusion) Nephelometry
11 SERPINA1 product : protein (AAT) qualitative determination Anode Isoelectric focusing (IEF) ( phenotype ) + M1 M2 M1 S M1 I M1 M1 M1 Z Z Z F M S - Z Cathode
12 SERPINA1 gene : Z and S mutation rapid analysis Genotyping
13 SERPINA1 gene : sequence analysis Deletion Sequence analysis PI*M/Mmalton C insertion PI*M/Mprocida PI*M/Q0clayton PI*M/Plowell
14 Clinical Recognition of AATD Lab Diagnosis of AATD : an interplay of 4 biochemical methods AATD Diagnostic Algorithms Specific Issues
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18 Sample collection (DBS) shipment AAT protein level: nephelometer S and Z variant genotype: SexAI/Hpy99I RFLP AAT > 113 mg/dl AAT < 113 mg/dl S Z genotype: negative S Z genotype: positive S Z genotype: negative S Z genotype: positive Phenotype (IEF) Phenotype (IEF) Sequencing Phenotype (IEF) 1 = normal 1 2 = intermediate AATD 2 Homozygous for deficient allele? no yes PI*ZZ or PI*SS? yes no AAT < 70mg/dl? 3 = severe AATD (compound heterozygous) 4 = severe AATD (homozygous) Ferrarotti et al, Transl Res 2007; 1 50: 267 Q0 isola di procida detection no yes Sequencing Erratum 2008:151:232
19 Clinical Recognition of AATD Lab Diagnosis of AATD : an interplay of 4 biochemical methods AATD Diagnostic Algorithms Specific Issues
20 Look at the discordance!
21 Dried blood spot (DBS) is not serum/plasma Blood Plasma Serum
22 Validation of a simple, rapid method to measure α1- AAT in human dried blood spots Gorrini M et al Clin Chem 2006;52:899
23 AAT mg/dl Cut-off PI*MM homozygote (30) Mheterozygote PI*MR (4) Mr heterozygote PI*MS (5) MS heterozygote PI*MZ (14) MZ heterozygote PI*SZ (2) SZ PI*ZZ homozygote (14) + Z (30) (4) (5) (14) (2) PI*ZR (14) (3) + heterozygote Zr (3) Validation of a simple, rapid method to measure α1-at in human dried blood spots Gorrini M et al Clin Chem 2006;52:899
24 RELATIONSHIP BETWEEN C-REACTIVE PROTEIN AND ALPHA1-ANTITRYPSIN LEVELS DETERMINED IN DRIED BLOOD SPOT FLUID Serum/Plasma mg/dl 3,0 2,5 2,0 1,5 1,0 0,5 y = 0,9753x + 0,0085 R 2 = 0,9927 0,0 0,0 0,5 1,0 1,5 2,0 2,5 3,0 DBS CRP m g/dl
25 Stratification of AAT levels in a series of PI*MZ individuals according to C Reactive Protein level AAT (mg/dl) mg/dl 50 CRP 0.8mg/dL CRP > 0.8mg/dL
26 Michele Zorzetto Marina Gorrini Roberta Scabini Simona Inghilleri Ilaria Ferrarotti Ilaria Campo Stefania Ottaviani
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