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

Max J. Hilz, Eloisa Arbustini, Lorenzo Dagna, Antonio Gasbarrini, Cyril Goizet, Didier Lacombe, Rocco Liguori, Raffaele Manna, Juan Politei, Marco Spada, Alessandro Burlina
Digestive and Liver Disease. 2018-05-01; 50(5): 429-437
DOI: 10.1016/j.dld.2018.02.011

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1. 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?

Hilz MJ(1), Arbustini E(2), Dagna L(3), Gasbarrini A(4), Goizet C(5), Lacombe
D(5), Liguori R(6), Manna R(7), Politei J(8), Spada M(9), Burlina A(10).

Author information:
(1)Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.
(2)Center for Inherited Cardiovascular Diseases, IRCCS Foundation Policlinico San
Matteo, Pavia, Italy.
(3)Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS
San Raffaele Hospital, Milan, Italy; Vita-Salute San Raffaele University, Milan,
(4)Department of Medical Sciences, Division of Gastroenterology, Catholic
University, Rome, Italy.
(5)CHU Bordeaux, Department of Medical Genetics, Bordeaux, France; INSERM Unit
1211, Laboratoire MRGM, University of Bordeaux, Bordeaux, France.
(6)Department of Biomedical and Neuromotor Sciences, University of Bologna,
Bologna, Italy; IRCCS Institute of Neurological Sciences, Bologna, Italy.
(7)Periodic Fever and Rare Diseases Research Centre, Gemelli Foundation, Catholic
University of the Sacred Heart, Rome, Italy.
(8)Department of Neurology, Fundación para el Estudio de las Enfermedades
Neurometabólicas (FESEN), Buenos Aires, Argentina.
(9)Department of Pediatrics, University of Torino, Torino, Italy.
(10)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.

Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

DOI: 10.1016/j.dld.2018.02.011
PMID: 29602572 [Indexed for MEDLINE]

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