title: Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.
abstract: Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical.
authors.affiliation: MGH Center for Neurointestinal Health, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Massachusetts General Hospital for Children, 175 Cambridge St CPZ-575, Boston, MA 02114, USA.
authors.forename: Claire
authors.initials: C
authors.lastname: Zar-Kessler
authors.affiliation: Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Amel
authors.initials: A
authors.lastname: Karaa
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Katherine Bustin
authors.initials: KB
authors.lastname: Sims
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Virginia
authors.initials: V
authors.lastname: Clarke
authors.affiliation: MGH Center for Neurointestinal Health, GI Unit Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Braden
authors.initials: B
authors.lastname: Kuo
keywords: abdominal pain; diarrhea; lysosomal storage disease; neuropathy