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

Mina Susanne Weedon-Fekjær; Hege Kampen Pihlstrøm; Harald Weedon-Fekjær; Birgitte Berentsen; Jan Gunnar Hatlebakk; Birgitte Bjerkely; Olga Karin Solberg; Ketil Riddervold Heimdal; Kristin Ørstavik; Trond G Jenssen; Solrun Sigurdardottir

doi:10.1186/s12876-025-04439-0

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

BMC Gastroenterol. 2025 Nov 19;25(1):819. doi: 10.1186/s12876-025-04439-0.

Affiliations

¹ Norwegian Centre for Rare Diseases, Oslo University Hospital, Rikshospitalet, P.O. Box 4950, Oslo, Nydalen, HF, N-0424, Norway.
² Department of Surgery, Inflammation Medicine and Transplantation, Section of Nephrology, Oslo University Hospital, Rikshospitalet, Oslo, HF, Norway.
³ Oslo Centre for Biostatistics and Epidemiology, Research Support Services, Oslo University Hospital, Oslo, Norway.
⁴ National Center for Functional Gastrointestinal Disorders, Department of Medicine, Haukeland University Hospital, Bergen, Norway.
⁵ Center for Nutrition, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
⁶ Department of Medical Genetics, Section for Clinical Genetics, Oslo University Hospital, Oslo, Norway.
⁷ Department of Neurology, Section for Rare Neuromuscular Disorders and EMAN, Oslo University Hospital, Oslo, Norway.
⁸ Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
⁹ Norwegian Centre for Rare Diseases, Oslo University Hospital, Rikshospitalet, P.O. Box 4950, Oslo, Nydalen, HF, N-0424, Norway. sosigu@ous-hf.no.

Abstract

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.

Keywords: Fabry disease; Gastrointestinal; Health-related quality of life; Irritable bowel syndrome; Neuropathic pain.

MeSH terms

Abdominal Pain / epidemiology
Abdominal Pain / genetics
Adult
Cross-Sectional Studies
Fabry Disease* / complications
Fabry Disease* / epidemiology
Fabry Disease* / physiopathology
Fabry Disease* / psychology
Female
Gastrointestinal Diseases* / epidemiology
Gastrointestinal Diseases* / genetics
Humans
Male
Middle Aged
Norway / epidemiology
Quality of Life