1966: Investigating Esophageal Involvement in Anti-Synthetase Syndrome: How to Discover the Submerged?

Federico Fattorini¹, Chiara Cardelli¹, Simone Barsotti², Michele Diomedi¹, Elenia Laurino¹, Mariano Grosso³, Linda Carli¹ and Marta Mosca¹, ¹Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy, ²Internal Medicine, Ospedale di Livorno, Pisa, Italy, ³Nuclear Medicine, Department of Translational Research and New Technology in Medicine, University of Pisa, Pisa, Italy

Background/Purpose: Anti-synthetase syndrome (ASS) is an idiopathic inflammatory myopathy, typically characterized from the triad interstitial lung disease (ILD), myositis and arthritis, together with anti-aminoacyl tRNA synthetase (ARS) antibodies (Ab) positivity. Recent data suggested esophageal involvement could commonly occurs, being related to a higher risk of pulmonary complications, at first ab ingestis pneumonia, able to significantly worsen the respiratory function of ASS patients and related to a poor prognosis. Esophageal involvement can be assessed using both double-contrast conventional radiology (DCCR) and oro-pharyngeal-esophageal scintigraphy (OPES). Moreover, DCCR may show the presence of gastrointestinal (GI) pathologies, such as esophagitis, achalasia and hiatal hernia, with a prevalence in Italian population up to 33%, 0.03% and 10% respectively. The first aim of the study is to evaluate the prevalence of esophageal involvement in a monocentric cohort of patients with ASS; secondly, we aimed at comparing DCCR and OPES in highlighting swallowing dysfunctions or GI comorbidities.

Methods: We retrospectively analyzed medical records of consecutive patients with a diagnosis of ASS based on both physicians' clinical diagnosis and ARS Ab positivity, regularly followed at our Myositis Clinic from January 2018 to May 2023. Demographic and clinical data of patients, together with DCCR and OPES results were collected; moreover, patients were asked to fill in MD Anderson Dysphagia Inventory (MDADI) to evaluate their dysphagia. Intergroups comparisons were assessed by using Chi-square, t-test and ANOVA. P values < 0.05 were considered significant.

Results: We included 37 patients (21 female, 56.8%) with a mean age of 56.3±7.9 years; 12 (32.5%) reported dysphagia and, on 31 (83.7%) who filled in MDADI, 9 (29%) showed scores corresponding to a swallowing disability, significantly associated to subjective dysphagia (p< 0.001). Twenty patients (54.1%) performed OPES; up to 5/20 (25%) showed an increased esophageal (E) transit time (TT), oropharyngeal (OP) retention index (RI) was increased in up to 17/20 patients (85%) and E RI was increased in up to 12/20 patients (60%). DCCR was performed in 14 patients (37.8%); hypotone and hypokinesis were found in 7/14 (50%); besides, DCCR highlighted the presence of achalasia, esophagitis and hiatal hernia respectively in 7 (50%), 10 and 10 (71.4%) patients.

Conclusion: Less than one third of ASS patients perceive to have dysphagia; however, up to 85% of those who underwent OPES and up to 50% of those who performed DCCR showed a significant swallowing dysfunction. Moreover, DCCR showed a significantly higher prevalence of GI comorbidities in ASS patients than in the general population. This is the first study at our knowledge analyzing the prevalence of esophageal involvement in ASS, through 2 different methods and in comparison with patients' perception of dysphagia. Further studies are needed to confirm our data, but they already could suggest to investigate GI involvement and GI comorbidities in ASS, even in asymptomatic patients, with the aim of optimizing their quality of care, also reducing the risk of respiratory complications related to dysphagia.


F. Fattorini: None; C. Cardelli: None; S. Barsotti: None; M. Diomedi: None; E. Laurino: None; M. Grosso: None; L. Carli: None; M. Mosca: AstraZeneca, 2, Bristol-Myers Squibb(BMS), 2, Eli Lilly, 2, GlaxoSmithKlein(GSK), 2, Otsuka, 2, UCB, 2.