Gastrointestinal Symptoms

Gastrointestinal symptoms are thought to be due to the deposition of glycosphingolipids in mesenteric blood vessels and autonomic ganglia.1 Histological and radiological abnormalities of the gastrointestinal tract as well as abnormal gastric emptying have been documented in symptomatic patients.2

Up to two-thirds of affected males and about half of symptomatic females may experience gastrointestinal symptoms associated with Fabry disease.3 Gastrointestinal symptoms may include:

  • Postprandial bloating
  • Abdominal cramping and pain
  • Early satiety
  • Diarrhea
  • Constipation
  • Nausea
  • Vomiting

References:

1. Sheth KJ, SL Werlin, ME Freeman, AE Hodach. Gastrointestinal structure and function in Fabry's disease. Am J Gastroenterol. 1981;76:246-251.

2. Argoff CE, NW Barton, RO Brady, HA Ziessman. Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide. Nucl Med Commun. 1998;19:887-891.

3. MacDermot KD, A Holmes, AH Miners. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38:769-775.