Associations between Patterns of Esophageal Dysmotility and Extra-Intestinal Features in Patients with Systemic Sclerosis.

OBJECTIVES: The gastrointestinal (GI) tract is commonly involved in patients with systemic sclerosis (SSc) with varied manifestations. As our understanding of SSc GI disease pathogenesis and risk stratification is limited, we sought to investigate whether patterns of esophageal dysfunction associate with specific clinical phenotypes in SSc.

METHODS: Patients enrolled in the Johns Hopkins Scleroderma Center (JHSC) Research Registry who completed high resolution esophageal manometry (HREM) studies as part of their clinical care between 2011 and 2020 were identified. Associations between esophageal abnormalities on HREM [absent contractility (AC), ineffective esophageal motility (IEM), hypotensive LES (hypoLES)] and patient demographics, clinical characteristics, and autoantibody profiles were examined.

RESULTS: Ninety-five patients with SSc had HREM data. Sixty-five patients (68.4%) had AC (37 patients with only AC, 28 patients with AC and a hypoLES), 9 patients (9.5%) had IEM, and 11 patients (11.6%) had normal studies. AC was significantly associated with diffuse cutaneous disease (38.5% vs. 10.0%, p<0.01), more severe Raynaud phenomenon (RP) including digital pits, ulcers, or gangrene (56.9% vs. 30.0%; p=0.02) and reduced median diffusing capacity of lung for carbon monoxide (DLCO; 50.6% vs. 72.2%, p=0.03). AC was observed in most of the patients who died (13/14, p= 0.06). These findings were not seen in patients with IEM.

CONCLUSION: Among patients with SSc, AC is associated with a significantly more severe clinical phenotype. IEM may associate with a milder phenotype. Further studies are needed to evaluate AC, IEM and their clinical impact relative to the timing of other end organ complications in SSc.