Abstract
AbstractBackground and aimsWe examined autoimmunity markers (AIMs) in patients with unexplained gastrointestinal symptoms, their relationship to joint hypermobility/hypermobility spectrum disorder (JH/HSD) and the response to intravenous immunoglobulin (IVIG).MethodsThe study comprised of three cohorts, consisting of adolescent or adult patients with gastrointestinal symptoms affecting more than one region of the gut who underwent laboratory tests, whole gut transit studies, and autonomic testing. AIM positive patients were defined based on a diagnosis of known rheumatic disease with one positive seromarker of autoimmunity or at least two positive seromarkers. The three cohorts were (a) Retrospective (n = 300); (b) Prospective validation cohort (n =133); and (c) Patients with AIM (n=32) prospectively treated with IVIG and followed with standardized questionnaires.ResultsAIMs were found in 39% of the retrospective cohort, of which the majority had a known rheumatic disorder. In the prospective cohort AIMs were noted in 35% overall but the rate was much higher in patients with JH/HSD (49% versus 21%, p=0.001). Significantly more patients with AIMs had elevations of C-reactive protein and erythrocyte sedimentation rate along with trends in tilt table test and HLADQ8 positivity. IVIG treatment was associated with a significantly greater overall treatment effect than controls and robust improvement over baseline in pain, gastrointestinal and autonomic symptoms.ConclusionsAutoimmune markers and autonomic dysfunction are common in patients with unexplained gastrointestinal dysmotility, especially in those with joint hypermobility. IVIG treatment was associated with symptomatic improvement in both gastrointestinal and autonomic symptoms. These results need to be corroborated by randomized clinical trials of immunomodulators but suggest that an autoimmune etiology may be important to diagnose in such patients. Clinicaltrials.gov,NCT04859829
Publisher
Cold Spring Harbor Laboratory