Gastroesophageal Reflux in Familial Dysautonomia: Correlation with Crisis Frequency and Sensory Dysfunction

Abstract

Familial dysautonomia (FD), a genetic disorder resulting in sensory and autonomic nervous system dysfunction, is associated with a high frequency of gastroesophageal reflux (GER). In this study the authors attempted to determine if GER prevalence correlated with dysautonomic crisis frequency and small fiber sensory dysfunction. Of an initial population of 252 FD patients who had survived past their seventh year and were alive during the year of study from June 1, 2001 to June 1, 2002, 174 (69.0%) had sufficient data in their patient files to be included in this retrospective analysis. Subjects were stratified into three groups: those with no GER, those medically treated for GER and those surgically treated for GER with fundoplication. Data were obtained regarding frequency and severity of dysautonomic crises and sensory function including pain sensation, cold and warm thresholds and vibration perception. There were no significant differences among the three groups regarding age or severity of sensory dysfunction. However, dysautonomic crises were significantly more frequent in FD patients who were presumed to have more intractable GER, as they had required fundoplication (P < 0.05). The data confirm the high incidence of GER in the FD population and demonstrate that GER is independent of severity of sensory dysfunction. In addition, the authors demonstrate that fundoplication does not alleviate the central autonomic cause of retching, the dysautonomic crisis.