Gastrointestinal involvement in Fabry disease. So important, yet often neglected.
Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal alpha-galactosidase A which causes accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body. Gastrointestinal signs and symptoms-abdominal pain, nausea, diarrhea and diverticular disease--are some of the most frequently reported complaints in patients with Fabry disease but are often neglected. Gastrointestinal symptoms are due to intestinal dysmotility as well as impaired autonomic function, vasculopathy and myopathy. Since 2001, enzyme replacement therapy has been a mainstay in treatment of gastrointestinal symptoms of Fabry disease (FD), resulting in reduced gastrointestinal symptoms. Here, we report on four patients with Fabry disease (FD) who manifested early gastrointestinal involvement.
Department of Neurology, Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN), Buenos Aires, Argentina.
J
J
Politei
Department of Pathology, Genzyme Corporation, Framingham, MA, USA.
B L
BL
Thurberg
Department of Medicine, University of Alabama, Birmingham, AL, USA.
E
E
Wallace
Department of Medicine, University of Alabama, Birmingham, AL, USA.
D
D
Warnock
Department of Genetics, LABGEN, Buenos Aires, Argentina.
G
G
Serebrinsky
Department of Neurology, Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN), Buenos Aires, Argentina.
C
C
Durand
Department of Neurology, Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN), Buenos Aires, Argentina.
A B
AB
Schenone
D000293:Adolescent; D000328:Adult; D000818:Animals; D015415:Biomarkers; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002648:Child; D015897:Comorbidity; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism*; D005260:Female; D005767:Gastrointestinal Diseases / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism*; D041981:Gastrointestinal Tract / Q000378:metabolism*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D014057:Tomography, X-Ray Computed; D055815:Young Adult
D015415:Biomarkers
Fabry disease; enzyme replacement therapy; α-galactosidase A