RT Journal Article SR Electronic T1 Clinical Effect of Alpha-1 Antitrypsin Deficiency in Antineutrophil Cytoplasmic Antibody–associated Vasculitis: Results from a French Retrospective Monocentric Cohort JF The Journal of Rheumatology JO J Rheumatol FD The Journal of Rheumatology SP 1502 OP 1508 DO 10.3899/jrheum.180591 VO 46 IS 11 A1 Samuel Deshayes A1 Nicolas Martin Silva A1 Frédérique Grandhomme A1 Kathy Khoy A1 Delphine Mariotte A1 Jonathan Boutemy A1 Gwénola Maigné A1 Claire Brière-Bellier A1 Claire Delmas A1 Boris Bienvenu A1 Thierry Lobbedez A1 Hubert de Boysson A1 Achille Aouba YR 2019 UL http://www.jrheum.org/content/46/11/1502.abstract AB Objective. Deficiency in alpha-1 antitrypsin (AAT) is a possible pathogenic cofactor in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). However, the clinical effect of AAT deficiency remains poorly established in this setting. This study aimed to describe the clinical phenotypes and outcomes of AAV according to AAT phenotypes.Methods. This study was conducted retrospectively at Caen University Hospital and included all consecutive granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA) patients with positive proteinase 3-ANCA or myeloperoxidase-ANCA, from January 2000 or September 2011, respectively, to June 2016. AAT dosage (nephelometry) and phenotyping (isoelectric focusing in agarose gel) were performed.Results. Among the 142 patients with AAV, including 88 GPA and 54 MPA, 102 (72%) had the MM phenotype, 5 (4%) had a nonpolymerogenic M-variant phenotype, 18 (13%) had the deficient allele MZ, 12 (8%) had MS, 2 (1%) had ZZ, 2 (1%) had SZ, and 1 (1%) had SS. M, Z, and S allele frequencies were 84%, 8%, and 6%, respectively. No association was observed between AAT deficiency and ANCA subtype or AAV phenotype, except for intraalveolar hemorrhage (IAH), which was more frequent in patients harboring at least 1 of the deficient Z or S alleles than in those without any deficient alleles (p < 0.01). Global, renal, or relapse-free survival rates were similar for all subgroups.Conclusion. This study shows that AAT deficiency confers, independently of ANCA subtype, a higher risk of IAH. Prospective studies are required to refine these data and to assess the need for replacement therapy in AAT-deficient patients with AAV.