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Master Thesis

Prévalence et impact clinique du déficit en alpha-1-antitrypsine dans la granulomatose éosinophilique avec polyangéite : une étude rétrospective de 36 patients

Abstract : Introduction: Anti-proteinase 3 and anti-myeloperoxydase vasculitis are associated with an overrepresentation of deficient alpha-1-antitrypsin (α1AT) alleles. However, eosinophilic granulomatosis with polyangiitis (EGPA) has not been the subject of specific studies. Therefore, this study aimed to describe the frequency of carrying at least one deficient α1AT allele and to analyze the clinical presentation and relapse-free survival of GEPA according to the α1AT phenotype. Methods: From December 2011 to 2021, we collected clinico-biological data of patients followed for EGPA at the University Hospital of Caen. α1AT dosage and phenotyping were performed from serum samples available in the immunology laboratory. Results: Among the 36 included patients, 42% (n=15) had positive antineutrophil cytoplasmic antibodies (ANCA) and 36% (n=9) relapsed. ANCA-positive EGPA had more frequently polyneuropathy (p=0.046) and a higher α1AT level (p=0.007). M, S and Z allele frequencies were 90%, 7% and 3%, respectively. The comparison of patients with (n=6) or without (n=30) deficient alleles did not reveal any significant difference in ANCA positivity rate (p=0.68), vasculitic (p=0.65) or eosinophilic (p=0.068) presentations. There was no significant difference in relapse-free survival between patients with and without deficient alleles (p=0.14). Conclusion: There was no evidence of overrepresentation of deficient α1AT alleles in patients with EGPA, or significant difference in EGPA phenotype or outcome according to α1AT phenotype.
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Master Thesis
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Submitted on : Friday, February 11, 2022 - 12:40:29 PM
Last modification on : Saturday, April 2, 2022 - 3:38:36 AM
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Cédric Costa. Prévalence et impact clinique du déficit en alpha-1-antitrypsine dans la granulomatose éosinophilique avec polyangéite : une étude rétrospective de 36 patients. Médecine humaine et pathologie. 2021. ⟨dumas-03566051⟩

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