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Dig Liver Dis. 2018 May;50(5):429-437. doi: 10.1016/j.dld.2018.02.011. Epub 2018 Mar 1.

Non-specific gastrointestinal features: Could it be Fabry disease?

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Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.
Center for Inherited Cardiovascular Diseases, IRCCS Foundation Policlinico San Matteo, Pavia, Italy.
Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Hospital, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy.
Department of Medical Sciences, Division of Gastroenterology, Catholic University, Rome, Italy.
CHU Bordeaux, Department of Medical Genetics, Bordeaux, France; INSERM Unit 1211, Laboratoire MRGM, University of Bordeaux, Bordeaux, France.
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; IRCCS Institute of Neurological Sciences, Bologna, Italy.
Periodic Fever and Rare Diseases Research Centre, Gemelli Foundation, Catholic University of the Sacred Heart, Rome, Italy.
Department of Neurology, Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN), Buenos Aires, Argentina.
Department of Pediatrics, University of Torino, Torino, Italy.
Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy. Electronic address:


Non-specific gastrointestinal symptoms, including pain, diarrhoea, nausea, and vomiting, can be the first symptoms of Fabry disease. They may suggest more common disorders, e.g. irritable bowel syndrome or inflammatory bowel disease. The confounding clinical presentation and rarity of Fabry disease often cause long diagnostic delays and multiple misdiagnoses. Therefore, specialists involved in the clinical evaluation of non-specific upper and lower gastrointestinal symptoms should recognize Fabry disease as a possible cause of the symptoms, and should consider Fabry disease as a possible differential diagnosis. When symptoms or family history suggest Fabry disease, in men, low alpha-galactosidase A enzyme levels, and in women, specific Fabry mutations confirm the diagnosis. In addition to symptomatic treatments, disease-specific enzyme replacement therapy with recombinant human alpha-galactosidase A enzyme or chaperone therapy (migalastat) in patients with amenable mutations can improve the disease, including gastrointestinal symptoms, and should be initiated as early as possible after Fabry disease has been confirmed; starting enzyme replacement therapy at as young an age as possible after diagnosis improves long-term clinical outcomes. Improved diagnostic tools, such as a modified gastrointestinal symptom rating scale, may facilitate diagnosing Fabry disease in patients with gastrointestinal symptoms of unknown cause and thus assure timely initiation of disease-specific treatment.


Abdominal pain; Diarrhoea; Enzyme replacement therapy; Fabry disease; Lysosomal storage disorders; OMIM #301500; Rare diseases

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