Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health.

BACKGROUND: Fabry disease is a rare X-linked lysosomal storage disorder that affects multiple organ systems, including the gastrointestinal tract. The aims were to characterize the prevalence, characteristics, and severity of gastrointestinal symptoms in patients with Fabry disease compared to the general population, and to investigate the relationships between these gastrointestinal symptoms with clinical outcomes, including disease severity (DS3), health-related quality of life, psychological distress, and pain. METHODS: A cross-sectional study design was used. Adults (≥ 18 years) with Fabry disease attending regular follow-up appointments at Oslo University Hospital, Norway, were recruited. Participants completed validated measures in Norwegian language of gastrointestinal symptoms [Rome III and the Irritable Bowel Syndrome Severity Scoring System (IBS-SSS)], Short-Form Health Survey-36 (SF-36v2), Hospital Anxiety and Depression scale, and Brief Pain Inventory. RESULTS: Thirty-five adults with Fabry disease participated (mean age = 48 years; 54% women). More than 70% of participants reported at least one gastrointestinal symptom. The frequencies of IBS-like symptoms (42%), bloating (68%), severe bloating (44%), and nausea (23%) were significantly higher in the Fabry disease group compared to the general population. The IBS-SSS total score showed that 40% had moderate to severe IBS symptoms. Bivariate correlations revealed that gastrointestinal symptoms (IBS-SSS) were significantly related to severity of Fabry disease (r = 0.47), the SF-36v2 physical component summary score (r = -0.39), and pain measures (r = 0.38-0.46). CONCLUSIONS: The high frequency of gastrointestinal symptoms in adults with Fabry disease suggests routine gastrointestinal screening alongside pain monitoring in clinical practice. These symptoms were related to disease severity, physical quality of life, and pain. Abdominal pain was most common, while IBS-like symptoms, bloating and nausea also occurred more often than in the general population. Further research on symptom progression and diet is needed.