Autoimmune comorbidity in achalasia patients

Abstract

Background and Aim: Idiopathic achalasia is a rare esophageal motor disorder. The disease state manifests local and systemic inflammation, and it appears that an autoimmune component and specific autoantibodies participate in the pathogenesis. The study aims to determine the prevalence of autoimmune and chronic inflammatory diseases in patients with achalasia and compare the results with those from patients with gastroesophageal reflux disease (GERD). Methods: It was a cross-sectional and included 114 patients with idiopathic achalasia and 114 age-matched and sex-matched control patients with GERD. Data on the presence of autoimmune and inflammatory diseases, the time of presentation, and any family history of autoimmune disease were obtained from the hospital's medical records. Results: Seventy three (64%) were female patients (mean age: 42.3 ± 15.5; median disease duration: 12 months). We identified the presence of autoimmune disease in 19 patients with achalasia (16.7%), hypothyroidism was the main diagnosis, and it was present in 52.6% of patients compared with 4.2% in controls. Thirteen of the 19 achalasia patients (68.4%) with autoimmune disease had history of familial autoimmunity. We identified 11 achalasia (9.6%) and 5 GERD patients (4.16%) with an inflammatory condition. Compared with the GERD, the achalasia group was 3.8 times more likely to have an autoimmune disease (95% CI: 1.47-9.83), 3.0 times more likely to have thyroidopathies (95% CI: 1.00-9.03), and 3.02 times more likely to suffer from any chronic inflammatory disease (95% CI: 1.65-6.20). Conclusions: The non-negligible number of patients with autoimmune diseases identified among the patients with idiopathic achalasia supports the hypothesis that achalasia has an autoimmune component.

Infectious agents as potential triggers for autoimmunity in achalasia

“…The association of achalasia with antinuclear antibodies (ANAs) has been reported 75,76 . ANAs are present in 56-68% of the patients with achalasia.…”

“…The most prevalent pattern observed is speckled, followed by nucleolar, homogeneous, and nuclear mitotic apparatus (NuMA)-1. Moreover, unusual staining patterns in the nuclei, such as cytoplasmic staining as in anti-Jo-1 (histidyl tRNA synthetase) positive polymyositis/dermatomyositis, and antimitochondrial antibodies have been determined 75 . At present, cytoplasmic structure has become highly relevant due to a critical role in the functions of siRNA and miRNAs 12,[72][73][74][75][76][77] .…”

“…Autoimmune diseases often occur in association with one another, either involving a single individual or within a family sharing autoimmune diseases and the presence of autoantibodies without disease. Compared with the general population, patients with achalasia are 3.6 times more likely to have autoimmune diseases, including uveitis (risk ratio [RR] = 259), Sjögren's syndrome (RR = 37), systemic lupus erythematosus (RR = 43), Type 1 diabetes (RR = 5.4), hypothyroidism (RR = 8.5), rheumatoid arthritis (RR = 2.4), scleroderma, ankylosing spondylitis, myasthenia gravis, Guillain-Barre syndrome, autoimmune acquired hemophilia A, polyglandular autoimmune syndrome Type II, and psoriasis and asthma 73,75,77,[83][84][85][86][87][88] . Intriguingly, the younger population of patients with achalasia was shown to have a higher prevalence of autoimmune comorbidities (RR = 3.3) 87 , compared with an older population of patients with achalasia.…”

“…Thirteen of the 19 achalasia patients (68.4%; 95% CI: 4.2-13.8%) with autoimmune disease had history of familial autoimmunity (six with hypothyroidism, one with hyperthyroidism, and six with rheumatoid arthritis). Compared with the GERD group, the achalasia group was 3.8 times more likely to have an autoimmune disease (95% CI: 1.47-9.83), 3.0 times more likely to have thyroidopathies (95% CI: 1.00-9.03), and 3.02 times more likely to suffer from any chronic inflammatory disease including allergic rhinitis, asthma, rosacea, and gout (95% CI: 1.65-6.20) 75 .…”

Acalasia por autoinmunidad secundaria a infecciones virales, el eje cerebro-intestino-microbioma en obesidad, ultrasonido endoanal para incontinencia fecal y superposición de EII y SII en niños

“…El primer artículo de Furuzawa-Carballeda, liderado por Torres-Villalobos del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán de México, analiza el potencial efecto de los agentes virales neurotrópicos que producen una inflamación persistente en los plexos mientéricos del esófago, lo que desencadena una respuesta autoinmunitaria que lleva a la acalasia 1 . Torres-Villalobos y su grupo han acumulado ya una experiencia de algunos años en el estudio de esta interesante relación de infección, autoinmunidad y acalasia [2][3][4][5] . En su revisión han descrito los diferentes virus que se han vinculado con la acalasia, entre ellos el virus del herpes tipo 1 (HSV-1), los intrincados procesos inmunológicos que precipitan las infecciones virales crónicas y la reacción inmunitaria aberrante, que bajo una predisposición genética facilitan la pérdida de neuronas esofágicas y por ende llevan al desarrollo de la acalasia.…”