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Sechi, Elia; Deiana, Giovanni A.; Puci, Mariangela; Zara, Pietro; Ortu, Enzo; Porcu, Caterina; Carboni, Nicola; Chessa, Paola; Ruiu, Elisa; Nieddu, Arianna; Tacconi, Paolo; Russo, Antonello; Manca, Davide; Sechi, M. Margherita; Guida, Melania; Ricciardi, Roberta; Ercoli, Tommaso; Mascia, Marcello M.; Muroni, Antonella; Profice, Paolo; Saddi, Valeria; Melis, Maurizio; Cocco, Eleonora; Spagni, Gregorio; Iorio, Raffaele; Damato, Valentina; Maestri, Michelangelo; Sotgiu, Stefano; Sotgiu, Giovanni; Solla, Paolo
Muscle & nerve, 20/May , Volume: 69, Issue: 5Journal Article
Introduction/Aims The global incidence and prevalence of myasthenia gravis (MG) range between 6–31/million and 10–37/100,000, respectively. Sardinia is a high‐risk region for different immune‐mediated disorders, but the epidemiology of MG remains unclear. We determined the epidemiology of MG with acetylcholine receptor (AChR)‐immunoglobulin G (IgG) and muscle‐specific tyrosine kinase (MuSK)‐IgG in the district of Sassari (North‐Western Sardinia; population, 325,288). Methods From the laboratory of the University Hospital of Sassari (reference for AChR/MuSK‐IgG testing in Sardinia since 1998) and the main neurology units in Sardinia, we retrospectively identified MG patients with (1) AChR‐IgG and/or MuSK‐IgG positivity by radioimmunoprecipitation assay; and (2) residency in the district of Sassari. Incidence (January 2010–December 2019) and prevalence (December 31, 2019) were calculated. Results A total of 202 patients were included (incident, 107; prevalent, 180). Antibody specificities were AChR (n = 187 93%) and MuSK (n = 15 7%). The crude MG incidence (95% confidence interval) was 32.6 (26.8–39.2)/million, while prevalence was 55.3 (47.7–63.9)/100,000. After age‐standardization to the world population, incidence decreased to 18.4 (14.3–22.5)/million, while prevalence decreased to 31.6 (26.1–37.0)/100,000. Among incident cases, age strata (years) at MG onset were: <18 (2%), 18–49 (14%), 50–64 (21%), and ≥65 (63%). Discussion Sardinia is a high‐risk region for MG, with a prevalence that exceeds the European threshold for rare disease. Identification of the environmental and genetic determinants of this risk may improve our understanding of disease pathophysiology.
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