Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease

J Inherit Metab Dis. 2004;27(4):499-505. doi: 10.1023/B:BOLI.0000037342.59612.69.

Abstract

Gastrointestinal symptoms, including diarrhoea and abdominal pain, are one of the earliest and most frequently reported signs of Fabry disease, a rare X-linked lipid storage disorder. As the disease progresses, renal, cardiac and cerebrovascular complications develop, resulting in more serious symptoms and early mortality. The present study evaluated the effects of enzyme replacement therapy (ERT) with agalsidase alfa on the gastrointestinal symptoms of Fabry disease. Following 6 months of treatment, both the severity ( p < 0.02) and frequency ( p < 0.02) of abdominal pain decreased. For those patients who had received agalsidase alfa for more than 6 months, the observed improvement was generally maintained. This is the first study indicating a significant beneficial effect of ERT on gastrointestinal symptoms in a group of patients treated for Fabry disease.

MeSH terms

  • Abdominal Pain / drug therapy
  • Abdominal Pain / etiology
  • Adolescent
  • Adult
  • Diarrhea / drug therapy
  • Diarrhea / etiology
  • Fabry Disease / complications
  • Fabry Disease / drug therapy*
  • Female
  • Gastrointestinal Diseases / drug therapy*
  • Gastrointestinal Diseases / etiology*
  • Humans
  • Isoenzymes / therapeutic use*
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Patient Satisfaction
  • Recombinant Proteins
  • Surveys and Questionnaires
  • alpha-Galactosidase / therapeutic use*

Substances

  • Isoenzymes
  • Recombinant Proteins
  • agalsidase alfa
  • alpha-Galactosidase