Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.
Fabio CaputoLisa LungaroAdriana GaldiEleonora ZoliFiorella GiancolaGiacomo CaioRoberto De GiorgioGiorgio ZoliPublished in: International journal of environmental research and public health (2021)
Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder leading to a wide array of clinical manifestations. Among these, gastrointestinal (GI) symptoms such as abdominal pain, bloating, and diarrhea affect about half of the FD adults and more than half of FD children. GI symptoms could be the first manifestation of FD; however, being non-specific, they overlap with the clinical picture of other conditions, such as irritable bowel syndrome and inflammatory bowel disease. This common overlap is the main reason why FD patients are often unrecognized and diagnosis is delayed for many years. The present narrative review is aimed to promote awareness of the GI manifestations of FD amongst general practitioners and specialists and highlight the latest findings of this rare condition including diagnostic tools and therapies. Finally, we will discuss some preliminary data on a patient presenting with GI symptoms who turned to be affected by a variant of uncertain significance of alpha-galactosidase (GLA) gene.
Keyphrases
- irritable bowel syndrome
- abdominal pain
- end stage renal disease
- case report
- ejection fraction
- chronic kidney disease
- newly diagnosed
- young adults
- replacement therapy
- sleep quality
- prognostic factors
- genome wide
- hypertrophic cardiomyopathy
- high resolution
- machine learning
- patient reported outcomes
- high throughput
- copy number
- left ventricular
- big data
- mass spectrometry
- deep learning
- smoking cessation
- data analysis