Gastrointestinal Manifestations and Treatment Options in Fabry Disease Patients. A Systematic Review

J Gastrointestin Liver Dis. 2022 Mar 19;31(1):98-106. doi: 10.15403/jgld-3855.


Background and aims: Fabry disease (FD) is a rare chronic genetic disorder that presents under a paucity of symptoms. Gastrointestinal (GI) involvement is a common event and can sometimes be debilitating, but relatively often it is overlooked. We aimed to provide a systematic review of main GI symptoms in FD patients and treatment possibilities.

Methods: We completed a systematic review of literature, using the MeSH terms: "Fabry disease", "gastrointestinal", "gastrointestinal", "digestive", "manifestations", "symptoms", "clinical", "treatment", "therapy" and the supplementary concepts "enzyme replacement", "chaperone", "Migalastat", in different combinations, with defined inclusion and exclusion criteria.

Results: From 221 initial studies identified, through our selection process we included a final date base of 51 articles on GI signs and symptoms and their treatment. The primary GI manifestations of the disease consist of abdominal pain, bowel movement disorders or nausea and vomiting. Less frequent manifestations such as diverticular bowel disease, gastroesophageal reflux or achalasia have also been described. Main treatment options in FD are represented by enzyme replacement therapy and chaperone treatment. Patients presenting with GI symptoms unfortunately do not always respond to enzyme replacement, necessitating symptomatic relief.

Conclusion: Fabry disease is a rare disease that often involves the GI tract, affecting patients' quality of life and burdening the healthcare system. Physicians must be aware of the multitude of manifestations in this category of patients, to promptly recognize and treat them.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Enzyme Replacement Therapy
  • Fabry Disease* / complications
  • Fabry Disease* / diagnosis
  • Fabry Disease* / drug therapy
  • Gastrointestinal Diseases* / diagnosis
  • Gastrointestinal Diseases* / etiology
  • Gastrointestinal Diseases* / therapy
  • Humans
  • Quality of Life