Original article—alimentary tractGastrointestinal Symptoms in 342 Patients With Fabry Disease: Prevalence and Response to Enzyme Replacement Therapy
Section snippets
Patients and Data Collection
FOS is an open international database for patients with a confirmed diagnosis of Fabry disease. The properties and management of the database have been described previously.3 Briefly, patients are evaluated on symptoms of 16 different organ systems by simple questions during regular visits at their treatment centers. Questions on gastrointestinal symptoms include the manifestation of abdominal pain (its nature, frequency, precipitants) as well as the occurrence of nausea, constipation,
Results
At the time of this analysis (October 2005), 752 patients had been enrolled in the FOS database from 11 countries in Europe. Clinical data on signs and symptoms of Fabry disease were available in 714 individuals (369 female and 345 male) including 127 children younger than the age of 18 years (70 girls, 57 boys). Patient characteristics are summarized in Table 1. Of these, 342 patients had documented information about gastrointestinal symptoms and had not been treated with ERT before or at the
Discussion
Fabry disease is a rare multisystemic inherited metabolic disease with profound effects in almost all organ systems, reduced life expectancy,4 and substantial involvement of the gastrointestinal tract.11, 18, 19, 20, 21, 22, 23, 24, 25 However, most reports are based on single cases or small cohorts. A larger cohort of patients was described by MacDermot et al,4 who reported a prevalence of approximately 70% for gastrointestinal symptoms in 98 male patients with Fabry disease. In this report,
References (38)
- et al.
Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options
Eur J Pharmacol
(2001) - et al.
Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy
Mol Genet Metab
(2005) - et al.
Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry’s disease
Gastroenterology
(1982) - et al.
Jejunal diverticulosis with perforation as a complication of Fabry’s disease
Gastroenterology
(1984) - et al.
Gender, age, society, culture, and the patient’s perspective in the functional gastrointestinal disorders
Gastroenterology
(2006) - et al.
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
Proc Natl Acad Sci U S A
(2000) - et al.
Prevalence of lysosomal storage disorders
JAMA
(1999) - et al.
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
Eur J Clin Invest
(2004) - et al.
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
J Med Genet
(2001) - et al.
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes
J Inherit Metab Dis
(2001)
Natural history of Fabry disease in females in the Fabry Outcome Survey
J Med Genet
Enzyme replacement therapy in Fabry disease: a randomized controlled trial
JAMA
Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease
N Engl J Med
Fabry disease: overall effects of agalsidase alfa treatment
Eur J Clin Invest
Anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum (Fabry-Anderson’s disease)
Dig Dis Sci
Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease
Eur J Gastroenterol Hepatol
Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention
Qual Life Res
Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease
J Inherit Metab Dis
EuroQol: a new facility for the measurement of health-related quality of life
Health Policy
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See list of Fabry Outcome Survey European Investigators in Appendix 1.
Data collection and analysis in FOS are supported by Shire Human Genetic Therapies AB (Danderyd, Sweden).
All authors have received travel grants from Shire Human Genetic Therapies (Shire HGT). B.H., A.M., and S.K. have received honoraria from Shire HGT for giving presentations at medical and scientific meetings. A.M. has received research funding support from Shire HGT.