Real world study on prevalence, treatment and economic burden of myasthenia gravis in Italy

Antonini, Giovanni; Habetswallner, Francesco; Inghilleri, Maurizio; Mantegazza, Renato; Rodolico, Carmelo; Saccà, Francesco; Sgarzi, Manlio; deRuyck, Femke; Paci, Sandra; Phillips, Glenn; Crippa, L.; Veronesi, Chiara; Perrone, Valentina; Esposti, Luca Degli

doi:10.1016/j.heliyon.2023.e16367

Cited by 6 publications

(4 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Data on MG epidemiology in Italy and Sardinia are scarce. [10][11][12][13] A small study in 2012 using data from 21 general practitioners in South Sardinia estimated a prevalence of adult MG of 35/100,000, including seronegative cases. 14 In Europe, a registry-based nationwide study in Sweden (2006Sweden ( -2016, including all MG subtypes, reported peaks of incidence and prevalence of 29/million and 36/100,000, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…Our findings are generalizable to the entire regional population but not to other Italian regions owing to important genetic and environmental differences. 11,22 The real MG incidence and prevalence in Sardinia are likely to be higher as we only included cases with AChR-IgG and MuSK-IgG positivity, and patients with available clinical details to avoid inclusion of rare patients with false antibody positivity. 23 Patients with lipoprotein-related protein 4-IgG or other less common antibodies were not included as testing for these antibodies is not routinary offered in Sardinia, and the optimal assays for their detection remain debated.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Epidemiology of seropositive myasthenia gravis in Sardinia: A population‐based study in the district of Sassari

Sechi,

Deiana,

Puci

et al. 2024

Muscle and Nerve

View full text Add to dashboard Cite

Introduction/AimsThe 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).MethodsFrom 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.ResultsA 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%).DiscussionSardinia 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.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Epidemiology of seropositive myasthenia gravis in Sardinia: A population‐based study in the district of Sassari

Sechi,

Deiana,

Puci

et al. 2024

Muscle and Nerve

View full text Add to dashboard Cite

show abstract

“…The epidemiological footprint of MG exhibits geographical disparities. For instance, in Europe, the incidence ranges between 1.74-2.9 per 100,000 inhabitants [3][4], while in Italy, a strikingly elevated rate of 13.5-29.3 per 100,000 is observed [5]. This ascending trend in MG incidence, while in icting physiological distress upon the a icted, concurrently imposes substantial economic encumbrances on familial structures and broader societal frameworks [6].…”

Section: Introductionmentioning

confidence: 99%

Assessing the causal relationship between inflammatory cytokines and myasthenia gravis: A bidirectional and two-sample Mendelian randomization study

Wang,

Li,

Zhang

2024

Preprint

View full text Add to dashboard Cite

Background: Myasthenia gravis (MG) is categorized as an autoimmune disorder. A myriad of preceding investigations have elucidated the interrelation between inflammation and MG. Nevertheless, the precise array of inflammatory cytokines and their underlying mechanisms of action remain enigmatic. Objective: The primary intent of this research was to discern and elucidate the potential causal associations between 41 inflammatory cytokines and MG, employing a bidirectional and two-sample Mendelian randomization (MR) paradigm. Methods: Summary statistics pertaining to MG were procured from a genome-wide association study (GWAS) comprising 232 cases and 217,056 controls of European descent. Concurrently, genetic variants were sourced from an avant-garde GWAS centered on inflammatory cytokines, with an inclusive sample of 8,293 European subjects. An array of techniques including Inverse Variance Weighted (IVW), MR-Egger, weighted median, simple mode, and Weighted Mode were harnessed to assess the putative causal interlinkages between the 41 inflammatory cytokines and MG. Primarily, IVW outcomes formed the basis for deliberations on causality. Additionally, the MR-Egger approach was utilized to ascertain the potential horizontal pleiotropy of instrumental variables, and Cochran's Q statistics were employed to gauge the heterogeneity intrinsic to instrumental variables (IV). Results: Findings derived from the IVW model posited that IL-10 (OR=0.46, 95% CI=0.300.72, P=0.0006), IL-17 (OR=0.43, 95% CI=0.210.85, P=0.015), MIP1a (OR=2.24, 95% CI=1.014.97, P=0.048), MIP1b (OR=0.84, 95% CI=0.720.99, P=0.033), and SDF1a (OR=2.32, 95% CI=1.124.81, P=0.024) are potentially implicated in MG susceptibility. Concurrently, cytokines such as bNGF (OR=1.03, 95% CI=1.001.07, P=0.038, PFDR=0.778) and MIF (OR=0.97, 95% CI=0.95~1.00, P=0.033, PFDR=0.778) are ostensibly resultant sequelae of MG pathology. Upon the application of the False Discovery Rate (FDR) correction, a profound association was discerned solely for IL-10 in relation to MG (PFDR=0.025). Contrastingly, multiple inflammatory cytokines, including IL-17, MIP1a, MIP1b, and SDF1a, failed to meet the threshold post-FDR correction (with PFDR＞0.05), as did bNGF and MIF. Conclusions: The Mendelian randomization study, anchored in genetic variation methodologies, substantiates that IL-10 potentially holds significant relevance in the etiological landscape of MG. Contrarily, no discernible evidence was found to implicate other inflammatory cytokines in the post-onset progression of MG.

show abstract

“…However, recent evidence has suggested that this incidence increase was attributable to an upward trend, particularly in LOMG [ 9 , 16 , 17 , 18 ]. Interestingly, a recent work has documented that the annual incidence of MG in Italy is among the highest in European countries [ 19 , 20 ], although, according to Antonini et al [ 21 ], its incidence in this country has currently only been estimated by patients’ associations. Accordingly, epidemiological studies performed by our research group from 1985 to 2007 in the province of Ferrara, Northern Italy, indicated, in the last few years, an increase in the frequency of LOMG and a decrease in EOMG, suggesting a changing pattern of MG incidence [ 22 , 23 ].…”

Section: Introductionmentioning

confidence: 99%

The Incidence of Myasthenia Gravis in the Province of Ferrara, Italy, in the Period of 2008–2022: An Update on a 40-Year Observation and the Influence of the COVID-19 Pandemic

Antonioni,

Raho,

Carlucci

et al. 2023

JCM

View full text Add to dashboard Cite

Myasthenia gravis (MG) is the most common neuromuscular junction disorder. We evaluated the MG incidence rate in the province of Ferrara, Northern Italy, over two time frames (2008–2018 and 2019–2022, i.e., the COVID-19 pandemic) and considered early-onset (EOMG), late-onset (LOMG), and thymoma- and non-thymoma-associated MG. Moreover, in the second period, we assessed its possible relationship with SARS-CoV-2 infection or COVID-19 vaccination. We used a complete enumeration approach to estimate the MG incidence and its temporal trend. For the period of 2008–18, 106 new cases were identified (mean incidence rate 2.7/100,000 people). The highest rates were observed for the over-70 age group and in rural areas, with 17% of thymoma-associated MG. During the COVID-19 period, 29 new cases were identified (average incidence rate 2.1/100,000 people), showing a marked (though not statistically significant) decrease in the mean annual incidence compared to the previous period. Again, the highest rate was observed for the over-70 age group. The first period was in line with our previous observations for the period between 1985 and 2007, highlighting a rising incidence of LOMG and a marked decrease in EOMG. During the COVID-19 period, incidence rates were lower in the first years whereas, when the pandemic ended, the previous trend was confirmed.

show abstract

Real world study on prevalence, treatment and economic burden of myasthenia gravis in Italy

Cited by 6 publications

References 29 publications

Epidemiology of seropositive myasthenia gravis in Sardinia: A population‐based study in the district of Sassari

Epidemiology of seropositive myasthenia gravis in Sardinia: A population‐based study in the district of Sassari

Assessing the causal relationship between inflammatory cytokines and myasthenia gravis: A bidirectional and two-sample Mendelian randomization study

The Incidence of Myasthenia Gravis in the Province of Ferrara, Italy, in the Period of 2008–2022: An Update on a 40-Year Observation and the Influence of the COVID-19 Pandemic

Contact Info

Product

Resources

About