Esophageal dysmotility patterns are associated with distinct clinical phenotypes and prognosis in patients with systemic sclerosis

Objectives Esophageal dysmotility is a common manifestation of SSc, contributing to substantial morbidity. We sought to determine whether esophageal dysmotility patterns, by high-resolution esophageal manometry were associated with distinct SSc clinical phenotypes and different outcomes. Methods We analyzed a cohort of SSc patients with detailed clinical and immunological data. Esophageal motility was classified using Chicago 4.0 criteria, and baseline characteristics were compared across motility patterns [Absent Contractility(AC), Ineffective Esophageal Motility(IEM), and Normal Motility]. Associations with adverse outcomes(death or lung transplantation) were evaluated using Kaplan-Meier and Cox regression analyses. Results Our cohort included 201 patients with SSc(84% female, mean age 45±17 years, follow-up 442 person-years). Esophageal dysmotility patterns were classified as AC in 86(43%), IEM in 57(28%), and normal motility in 58(29%). AC was associated with dcSSc, more severe digital ulcers, gastric vascular ectasia, anti-Ro60 antibodies, and a late pattern on nailfold capillaroscopy (p < 0.05), while IEM was linked to limited SSc, anti-centromere antibodies, and an early/active nailfold pattern. Multivariate time-to-event analysis identified AC as an independent risk factor for lung transplantation(HR = 7.004, 95%CI: 1.481–33.135, p = 0.014) after adjusting for both interstitial lung disease and male sex, and for SSc-related death(HR = 3.472, 95%CI: 1.071–10.969, p = 0.038) after adjusting for diffuse cutaneous SSc and interstitial lung disease. Conclusions We found that patients with AC and IEM have distinct clinical phenotypes, suggesting they are distinct entities. In patients with SSc, AC is independently associated with worse outcomes. These data suggest that HREM may be useful in risk stratification and outcome predictions in patients with SSc.