Features of Manifestation of Gastroesophageal Reflux Disease with Undifferentiated Connective Tissue Dysplasia

Romash Iryna

Department of Propaedeutics of Internal Medicine, Ivano-Frankivsk National Medical University, Ivano-Frankivsk, Ukraine

In recent years, interest in studying undifferentiated connective tissue dysplasia (UCTD) has increased. This is due to the fact, that this pathology is widespread in the population (frequency of manifestations ranges from 26 to 80%) and has diverse clinical manifestations. UCTD is a genetically heterogeneous disease,  due to changes in the genome in the case to multifactorial effects on the fetus. In most cases, a gene defect in the case of UCTD cannot be established. The most common manifestations of UCTD are myopia and astigmatism, valve syndrome (valve prolapses), arrhythmic syndrome, varicose veins, osteochondrosis, scoliosis, gastroesophageal reflux disease. There are disturbances in the formation of connective tissue, which causes a variety of clinical manifestations in patients with UCTD. Formation disorder connective tissue is directly related to increases the risk of complications in all related diseases. That’s why such comorbid pathology is relevance of studying [1,2,3].

Gastroesophageal reflux disease (GERD) is one of the most common diseases in which, according to various sources, suffer from 10 to 40% of the population. The risk of developing GERD increases with generalized or regional disruption of connective tissue structure that is widespread in the population. According to scientific data, UCTD is a premorbid background for the development of many pathological conditions and chronic diseases. UCTD is diagnosed when a patient has had symptoms and signs of connective tissue lesions for three or more years, positive antinuclear antibodies are detected in the serum but which do not correspond in their set to the criteria for any of differentiated connective tissue diseases [3,4 ]. According to the project of European Reference Networks (ERN) ReCONNET [5] enrollment of patients in the NDST group is possible if its manifestations are not specific for connective tissue diseases such as rheumatoid arthritis, scleroderma, systemic vasculitis, myositis, systemic lupus erythematosus Shegre’s syndrome  [1].

The digestive system is the second most often involved in dysplastic processes after the cardiovascular system  [6]. Cardia insufficiency is one of the manifestations of UCTD, and there is a direct relationship between the degree of UCTD and the incidence of GERD. In the patients with GERD associated with UCTD develop insufficiency of cardia and dysfunction of the lower esophageal sphincter (LES), reducted of the barrier capacity of the esophageal mucosa, increased in the number of acids and mixed content refluxes, observed the significant inflammatory process of the mucosa of the lower third of the esophagus, increasing the processes of smooth muscle elements degeneration, extracellular matrix accumulates in its walls and fibrosis increased. 

The scientific data indicate that the number of pathological gastroesophageal refluxes  is significantly higher in the setting of comorbidity. UCTD causes changes in the size of the digestive system and, above all, the esophagus, which is probably due to the mesenchymal origin of the latter and the wide representation of connective tissue in all its layers [1, 6, 7]. In 29.0% of patients with UCTD Kondoh Ya. et al. were diagnosed gastroesophageal reflux (GER), while among individuals without UCTD  – in 2.0%. More often manifestations from the gastroesophageal system were found against the background of connective tissue pathology, which included its undifferentiated dysplasia, among which: gastroesophageal reflux (GER) was noted in 68.0%, regurgitation – in 43.0%, dysphagia – in 33.0% patients [8]. Our research also showed that the chances of diagnosing Reynaud’s Syndrome, arthralgia, unmotivated body weight loss, dysphagia, skin rash, oral ulcers, proximal muscle weakness in the patients with GERD associated with UCTD are higher in comparison with the patients with GERD without comorbidity (р<0.05) [9]. This must be necessarily taken into account for the purpose of comprehensive early diagnosis and complex treatment of this combined pathology.


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